@article {8562,
	title = {{The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals},
	journal = {Nat Genet},
	volume = {48},
	year = {2016},
	month = {10},
	pages = {1171{\textendash}1184},
	abstract = {To dissect the genetic architecture of blood pressure and assess effects on target organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry, and genotypes from an additional 140,886 individuals were used for validation. We identified 66 blood pressure-associated loci, of which 17 were new; 15 harbored multiple distinct association signals. The 66 index SNPs were enriched for cis-regulatory elements, particularly in vascular endothelial cells, consistent with a primary role in blood pressure control through modulation of vascular tone across multiple tissues. The 66 index SNPs combined in a risk score showed comparable effects in 64,421 individuals of non-European descent. The 66-SNP blood pressure risk score was significantly associated with target organ damage in multiple tissues but with minor effects in the kidney. Our findings expand current knowledge of blood pressure-related pathways and highlight tissues beyond the classical renal system in blood pressure regulation.},
	author = {Ehret, G. B. and Ferreira, T. and Chasman, D. I. and Jackson, A. U. and Schmidt, E. M. and Johnson, T. and Thorleifsson, G. and Luan, J. and Donnelly, L. A. and Kanoni, S. and Petersen, A. K. and Pihur, V. and Strawbridge, R. J. and Shungin, D. and Hughes, M. F. and Meirelles, O. and Kaakinen, M. and Bouatia-Naji, N. and Kristiansson, K. and Shah, S. and Kleber, M. E. and Guo, X. and Lyytik?inen, L. P. and Fava, C. and Eriksson, N. and Nolte, I. M. and Magnusson, P. K. and Salfati, E. L. and Rallidis, L. S. and Theusch, E. and Smith, A. J. P. and Folkersen, L. and Witkowska, K. and Pers, T. H. and Joehanes, R. and Kim, S. K. and Lataniotis, L. and Jansen, R. and Johnson, A. D. and Warren, H. and Kim, Y. J. and Zhao, W. and Wu, Y. and Tayo, B. O. and Bochud, M. and Absher, D. and Adair, L. S. and Amin, N. and Arking, D. E. and Axelsson, T. and Baldassarre, D. and Balkau, B. and Bandinelli, S. and Barnes, M. R. and Barroso, I. and Bevan, S. and Bis, J. C. and Bjornsdottir, G. and Boehnke, M. and Boerwinkle, E. and Bonnycastle, L. L. and Boomsma, D. I. and Bornstein, S. R. and Brown, M. J. and Burnier, M. and Cabrera, C. P. and Chambers, J. C. and Chang, I. S. and Cheng, C. Y. and Chines, P. S. and Chung, R. H. and Collins, F. S. and Connell, J. M. and D?ring, A. and Dallongeville, J. and Danesh, J. and de Faire, U. and Delgado, G. and Dominiczak, A. F. and Doney, A. S. F. and Drenos, F. and Edkins, S. and Eicher, J. D. and Elosua, R. and Enroth, S. and Erdmann, J. and Eriksson, P. and Esko, T. and Evangelou, E. and Evans, A. and Fall, T. and Farrall, M. and Felix, J. F. and Ferri?res, J. and Ferrucci, L. and Fornage, M. and Forrester, T. and Franceschini, N. and Duran, O. H. F. and Franco-Cereceda, A. and Fraser, R. M. and Ganesh, S. K. and Gao, H. and Gertow, K. and Gianfagna, F. and Gigante, B. and Giulianini, F. and Goel, A. and Goodall, A. H. and Goodarzi, M. O. and Gorski, M. and Gr??ler, J. and Groves, C. and Gudnason, V. and Gyllensten, U. and Hallmans, G. and Hartikainen, A. L. and Hassinen, M. and Havulinna, A. S. and Hayward, C. and Hercberg, S. and Herzig, K. H. and Hicks, A. A. and Hingorani, A. D. and Hirschhorn, J. N. and Hofman, A. and Holmen, J. and Holmen, O. L. and Hottenga, J. J. and Howard, P. and Hsiung, C. A. and Hunt, S. C. and Ikram, M. A. and Illig, T. and Iribarren, C. and Jensen, R. A. and K?h?nen, M. and Kang, H. and Kathiresan, S. and Keating, B. J. and Khaw, K. T. and Kim, Y. K. and Kim, E. and Kivimaki, M. and Klopp, N. and Kolovou, G. and Komulainen, P. and Kooner, J. S. and Kosova, G. and Krauss, R. M. and Kuh, D. and Kutalik, Z. and Kuusisto, J. and Kval?y, K. and Lakka, T. A. and Lee, N. R. and Lee, I. T. and Lee, W. J. and Levy, D. and Li, X. and Liang, K. W. and Lin, H. and Lin, L. and Lindstr?m, J. and Lobbens, S. and M?nnist?, S. and M?ller, G. and M?ller-Nurasyid, M. and Mach, F. and Markus, H. S. and Marouli, E. and McCarthy, M. I. and McKenzie, C. A. and Meneton, P. and Menni, C. and Metspalu, A. and Mijatovic, V. and Moilanen, L. and Montasser, M. E. and Morris, A. D. and Morrison, A. C. and Mulas, A. and Nagaraja, R. and Narisu, N. and Nikus, K. and O{\textquoteright}Donnell, C. J. and O{\textquoteright}Reilly, P. F. and Ong, K. K. and Paccaud, F. and Palmer, C. D. and Parsa, A. and Pedersen, N. L. and Penninx, B. W. and Perola, M. and Peters, A. and Poulter, N. and Pramstaller, P. P. and Psaty, B. M. and Quertermous, T. and Rao, D. C. and Rasheed, A. and Rayner, N. W. N. W. R. and Renstr?m, F. and Rettig, R. and Rice, K. M. and Roberts, R. and Rose, L. M. and Rossouw, J. and Samani, N. J. and Sanna, S. and Saramies, J. and Schunkert, H. and Sebert, S. and Sheu, W. H. and Shin, Y. A. and Sim, X. and Smit, J. H. and Smith, A. V. and Sosa, M. X. and Spector, T. D. and Stan??kov?, A. and Stanton, A. and Stirrups, K. E. and Stringham, H. M. and Sundstrom, J. and Swift, A. J. and Syv?nen, A. C. and Tai, E. S. and Tanaka, T. and Tarasov, K. V. and Teumer, A. and Thorsteinsdottir, U. and Tobin, M. D. and Tremoli, E. and Uitterlinden, A. G. and Uusitupa, M. and Vaez, A. and Vaidya, D. and van Duijn, C. M. and van Iperen, E. P. A. and Vasan, R. S. and Verwoert, G. C. and Virtamo, J. and Vitart, V. and Voight, B. F. and Vollenweider, P. and Wagner, A. and Wain, L. V. and Wareham, N. J. and Watkins, H. and Weder, A. B. and Westra, H. J. and Wilks, R. and Wilsgaard, T. and Wilson, J. F. and Wong, T. Y. and Yang, T. P. and Yao, J. and Yengo, L. and Zhang, W. and Zhao, J. H. and Zhu, X. and Bovet, P. and Cooper, R. S. and Mohlke, K. L. and Saleheen, D. and Lee, J. Y. and Elliott, P. and Gierman, H. J. and Willer, C. J. and Franke, L. and Hovingh, G. K. and Taylor, K. D. and Dedoussis, G. and Sever, P. and Wong, A. and Lind, L. and Assimes, T. L. and Nj?lstad, I. and Schwarz, P. E. and Langenberg, C. and Snieder, H. and Caulfield, M. J. and Melander, O. and Laakso, M. and Saltevo, J. and Rauramaa, R. and Tuomilehto, J. and Ingelsson, E. and Lehtim?ki, T. and Hveem, K. and Palmas, W. and M?rz, W. and Kumari, M. and Salomaa, V. and Chen, Y. I. and Rotter, J. I. and Froguel, P. and Jarvelin, M. R. and Lakatta, E. G. and Kuulasmaa, K. and Franks, P. W. and Hamsten, A. and Wichmann, H. E. and Palmer, C. N. A. and Stefansson, K. and Ridker, P. M. and Loos, R. J. F. and Chakravarti, A. and Deloukas, P. and Morris, A. P. and Newton-Cheh, C. and Munroe, P. B.}
}
@article {8561,
	title = {{Novel genetic loci underlying human intracranial volume identified through genome-wide association},
	journal = {Nat Neurosci},
	volume = {19},
	year = {2016},
	month = {12},
	pages = {1569{\textendash}1582},
	abstract = {Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference ({\"I}genetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson{\textquoteright}s disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits.},
	author = {Adams, H. H. and Hibar, D. P. and Chouraki, V. and Stein, J. L. and Nyquist, P. A. and Renter?a, M. E. and Trompet, S. and Arias-Vasquez, A. and Seshadri, S. and Desrivi?res, S. and Beecham, A. H. and Jahanshad, N. and Wittfeld, K. and van der Lee, S. J. and Abramovic, L. and Alhusaini, S. and Amin, N. and Andersson, M. and Arfanakis, K. and Aribisala, B. S. and Armstrong, N. J. and Athanasiu, L. and Axelsson, T. and Beiser, A. and Bernard, M. and Bis, J. C. and Blanken, L. M. and Blanton, S. H. and Bohlken, M. M. and Boks, M. P. and Bralten, J. and Brickman, A. M. and Carmichael, O. and Chakravarty, M. M. and Chauhan, G. and Chen, Q. and Ching, C. R. and Cuellar-Partida, G. and Braber, A. D. and Doan, N. T. and Ehrlich, S. and Filippi, I. and Ge, T. and Giddaluru, S. and Goldman, A. L. and Gottesman, R. F. and Greven, C. U. and Grimm, O. and Griswold, M. E. and Guadalupe, T. and Hass, J. and Haukvik, U. K. and Hilal, S. and Hofer, E. and Hoehn, D. and Holmes, A. J. and Hoogman, M. and Janowitz, D. and Jia, T. and Kasperaviciute, D. and Kim, S. and Klein, M. and Kraemer, B. and Lee, P. H. and Liao, J. and Liewald, D. C. and Lopez, L. M. and Luciano, M. and Macare, C. and Marquand, A. and Matarin, M. and Mather, K. A. and Mattheisen, M. and Mazoyer, B. and McKay, D. R. and McWhirter, R. and Milaneschi, Y. and Mirza-Schreiber, N. and Muetzel, R. L. and Maniega, S. M. and Nho, K. and Nugent, A. C. and Loohuis, L. M. and Oosterlaan, J. and Papmeyer, M. and Pappa, I. and Pirpamer, L. and Pudas, S. and P?tz, B. and Rajan, K. B. and Ramasamy, A. and Richards, J. S. and Risacher, S. L. and Roiz-Santia?ez, R. and Rommelse, N. and Rose, E. J. and Royle, N. A. and Rundek, T. and S?mann, P. G. and Satizabal, C. L. and Schmaal, L. and Schork, A. J. and Shen, L. and Shin, J. and Shumskaya, E. and Smith, A. V. and Sprooten, E. and Strike, L. T. and Teumer, A. and Thomson, R. and Tordesillas-Gutierrez, D. and Toro, R. and Trabzuni, D. and Vaidya, D. and van der Grond, J. and van der Meer, D. and Van Donkelaar, M. M. and Van Eijk, K. R. and Van Erp, T. G. and van Rooij, D. and Walton, E. and Westlye, L. T. and Whelan, C. D. and Windham, B. G. and Winkler, A. M. and Woldehawariat, G. and Wolf, C. and Wolfers, T. and Xu, B. and Yanek, L. R. and Yang, J. and Zijdenbos, A. and Zwiers, M. P. and Agartz, I. and Aggarwal, N. T. and Almasy, L. and Ames, D. and Amouyel, P. and Andreassen, O. A. and Arepalli, S. and Assareh, A. A. and Barral, S. and Bastin, M. E. and Becker, D. M. and Becker, J. T. and Bennett, D. A. and Blangero, J. and van Bokhoven, H. and Boomsma, D. I. and Brodaty, H. and Brouwer, R. M. and Brunner, H. G. and Buckner, R. L. and Buitelaar, J. K. and Bulayeva, K. B. and Cahn, W. and Calhoun, V. D. and Cannon, D. M. and Cavalleri, G. L. and Chen, C. and Cheng, C. Y. and Cichon, S. and Cookson, M. R. and Corvin, A. and Crespo-Facorro, B. and Curran, J. E. and Czisch, M. and Dale, A. M. and Davies, G. E. and De Geus, E. J. and De Jager, P. L. and de Zubicaray, G. I. and Delanty, N. and Depondt, C. and DeStefano, A. L. and Dillman, A. and Djurovic, S. and Donohoe, G. and Drevets, W. C. and Duggirala, R. and Dyer, T. D. and Erk, S. and Espeseth, T. and Evans, D. A. and Fedko, I. O. and Fern?ndez, G. and Ferrucci, L. and Fisher, S. E. and Fleischman, D. A. and Ford, I. and Foroud, T. M. and Fox, P. T. and Francks, C. and Fukunaga, M. and Gibbs, J. R. and Glahn, D. C. and Gollub, R. L. and G?ring, H. H. and Grabe, H. J. and Green, R. C. and Gruber, O. and Gudnason, V. and Guelfi, S. and Hansell, N. K. and Hardy, J. and Hartman, C. A. and Hashimoto, R. and Hegenscheid, K. and Heinz, A. and Le Hellard, S. and Hernandez, D. G. and Heslenfeld, D. J. and Ho, B. C. and Hoekstra, P. J. and Hoffmann, W. and Hofman, A. and Holsboer, F. and Homuth, G. and Hosten, N. and Hottenga, J. J. and Hulshoff Pol, H. E. and Ikeda, M. and Ikram, M. K. and Jack, C. R. and Jenkinson, M. and Johnson, R. and J?nsson, E. G. and Jukema, J. W. and Kahn, R. S. and Kanai, R. and Kloszewska, I. and Knopman, D. S. and Kochunov, P. and Kwok, J. B. and Lawrie, S. M. and Lema?tre, H. and Liu, X. and Longo, D. L. and Longstreth, W. T. and Lopez, O. L. and Lovestone, S. and Martinez, O. and Martinot, J. L. and Mattay, V. S. and McDonald, C. and McIntosh, A. M. and McMahon, K. L. and McMahon, F. J. and Mecocci, P. and Melle, I. and Meyer-Lindenberg, A. and Mohnke, S. and Montgomery, G. W. and Morris, D. W. and Mosley, T. H. and M?hleisen, T. W. and M?ller-Myhsok, B. and Nalls, M. A. and Nauck, M. and Nichols, T. E. and Niessen, W. J. and N?then, M. M. and Nyberg, L. and Ohi, K. and Olvera, R. L. and Ophoff, R. A. and Pandolfo, M. and Paus, T. and Pausova, Z. and Penninx, B. W. and Pike, G. B. and Potkin, S. G. and Psaty, B. M. and Reppermund, S. and Rietschel, M. and Roffman, J. L. and Romanczuk-Seiferth, N. and Rotter, J. I. and Ryten, M. and Sacco, R. L. and Sachdev, P. S. and Saykin, A. J. and Schmidt, R. and Schofield, P. R. and Sigurdsson, S. and Simmons, A. and Singleton, A. and Sisodiya, S. M. and Smith, C. and Smoller, J. W. and Soininen, H. and Srikanth, V. and Steen, V. M. and Stott, D. J. and Sussmann, J. E. and Thalamuthu, A. and Tiemeier, H. and Toga, A. W. and Traynor, B. J. and Troncoso, J. and Turner, J. A. and Tzourio, C. and Uitterlinden, A. G. and Hern?ndez, M. C. and Van der Brug, M. and van der Lugt, A. and Van der Wee, N. J. and van Duijn, C. M. and Van Haren, N. E. and Van T Ent, D. and van Tol, M. J. and Vardarajan, B. N. and Veltman, D. J. and Vernooij, M. W. and V?lzke, H. and Walter, H. and Wardlaw, J. M. and Wassink, T. H. and Weale, M. E. and Weinberger, D. R. and Weiner, M. W. and Wen, W. and Westman, E. and White, T. and Wong, T. Y. and Wright, C. B. and Zielke, H. R. and Zonderman, A. B. and Deary, I. J. and DeCarli, C. and Schmidt, H. and Martin, N. G. and De Craen, A. J. and Wright, M. J. and Launer, L. J. and Schumann, G. and Fornage, M. and Franke, B. and Debette, S. and Medland, S. E. and Ikram, M. A. and Thompson, P. M.}
}
@article {8552,
	title = {{Novel genetic loci associated with hippocampal volume},
	journal = {Nat Commun},
	volume = {8},
	year = {2017},
	month = {01},
	pages = {13624},
	abstract = {The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer{\textquoteright}s disease (rg=-0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.},
	author = {Hibar, D. P. and Adams, H. H. H. and Jahanshad, N. and Chauhan, G. and Stein, J. L. and Hofer, E. and Renteria, M. E. and Bis, J. C. and Arias-Vasquez, A. and Ikram, M. K. and Desrivi?res, S. and Vernooij, M. W. and Abramovic, L. and Alhusaini, S. and Amin, N. and Andersson, M. and Arfanakis, K. and Aribisala, B. S. and Armstrong, N. J. and Athanasiu, L. and Axelsson, T. and Beecham, A. H. and Beiser, A. and Bernard, M. and Blanton, S. H. and Bohlken, M. M. and Boks, M. P. and Bralten, J. and Brickman, A. M. and Carmichael, O. and Chakravarty, M. M. and Chen, Q. and Ching, C. R. K. and Chouraki, V. and Cuellar-Partida, G. and Crivello, F. and den Braber, A. and Doan, N. T. and Ehrlich, S. and Giddaluru, S. and Goldman, A. L. and Gottesman, R. F. and Grimm, O. and Griswold, M. E. and Guadalupe, T. and Gutman, B. A. and Hass, J. and Haukvik, U. K. and Hoehn, D. and Holmes, A. J. and Hoogman, M. and Janowitz, D. and Jia, T. and J?rgensen, K. N. and Karbalai, N. and Kasperaviciute, D. and Kim, S. and Klein, M. and Kraemer, B. and Lee, P. H. and Liewald, D. C. M. and Lopez, L. M. and Luciano, M. and Macare, C. and Marquand, A. F. and Matarin, M. and Mather, K. A. and Mattheisen, M. and McKay, D. R. and Milaneschi, Y. and Mu?oz Maniega, S. and Nho, K. and Nugent, A. C. and Nyquist, P. and Loohuis, L. M. O. and Oosterlaan, J. and Papmeyer, M. and Pirpamer, L. and P?tz, B. and Ramasamy, A. and Richards, J. S. and Risacher, S. L. and Roiz-Santia?ez, R. and Rommelse, N. and Ropele, S. and Rose, E. J. and Royle, N. A. and Rundek, T. and S?mann, P. G. and Saremi, A. and Satizabal, C. L. and Schmaal, L. and Schork, A. J. and Shen, L. and Shin, J. and Shumskaya, E. and Smith, A. V. and Sprooten, E. and Strike, L. T. and Teumer, A. and Tordesillas-Gutierrez, D. and Toro, R. and Trabzuni, D. and Trompet, S. and Vaidya, D. and van der Grond, J. and van der Lee, S. J. and van der Meer, D. and van Donkelaar, M. M. J. and Van Eijk, K. R. and van Erp, T. G. M. and van Rooij, D. and Walton, E. and Westlye, L. T. and Whelan, C. D. and Windham, B. G. and Winkler, A. M. and Wittfeld, K. and Woldehawariat, G. and Wolf, C. and Wolfers, T. and Yanek, L. R. and Yang, J. and Zijdenbos, A. and Zwiers, M. P. and Agartz, I. and Almasy, L. and Ames, D. and Amouyel, P. and Andreassen, O. A. and Arepalli, S. and Assareh, A. A. and Barral, S. and Bastin, M. E. and Becker, D. M. and Becker, J. T. and Bennett, D. A. and Blangero, J. and van Bokhoven, H. and Boomsma, D. I. and Brodaty, H. and Brouwer, R. M. and Brunner, H. G. and Buckner, R. L. and Buitelaar, J. K. and Bulayeva, K. B. and Cahn, W. and Calhoun, V. D. and Cannon, D. M. and Cavalleri, G. L. and Cheng, C. Y. and Cichon, S. and Cookson, M. R. and Corvin, A. and Crespo-Facorro, B. and Curran, J. E. and Czisch, M. and Dale, A. M. and Davies, G. E. and de Craen, A. J. M. and de Geus, E. J. C. and De Jager, P. L. and de Zubicaray, G. I. and Deary, I. J. and Debette, S. and DeCarli, C. and Delanty, N. and Depondt, C. and DeStefano, A. and Dillman, A. and Djurovic, S. and Donohoe, G. and Drevets, W. C. and Duggirala, R. and Dyer, T. D. and Enzinger, C. and Erk, S. and Espeseth, T. and Fedko, I. O. and Fern?ndez, G. and Ferrucci, L. and Fisher, S. E. and Fleischman, D. A. and Ford, I. and Fornage, M. and Foroud, T. M. and Fox, P. T. and Francks, C. and Fukunaga, M. and Gibbs, J. R. and Glahn, D. C. and Gollub, R. L. and G?ring, H. H. H. and Green, R. C. and Gruber, O. and Gudnason, V. and Guelfi, S. and H?berg, A. K. and Hansell, N. K. and Hardy, J. and Hartman, C. A. and Hashimoto, R. and Hegenscheid, K. and Heinz, A. and Le Hellard, S. and Hernandez, D. G. and Heslenfeld, D. J. and Ho, B. C. and Hoekstra, P. J. and Hoffmann, W. and Hofman, A. and Holsboer, F. and Homuth, G. and Hosten, N. and Hottenga, J. J. and Huentelman, M. and Hulshoff Pol, H. E. and Ikeda, M. and Jack, C. R. and Jenkinson, M. and Johnson, R. and J?nsson, E. G. and Jukema, J. W. and Kahn, R. S. and Kanai, R. and Kloszewska, I. and Knopman, D. S. and Kochunov, P. and Kwok, J. B. and Lawrie, S. M. and Lema?tre, H. and Liu, X. and Longo, D. L. and Lopez, O. L. and Lovestone, S. and Martinez, O. and Martinot, J. L. and Mattay, V. S. and McDonald, C. and McIntosh, A. M. and McMahon, F. J. and McMahon, K. L. and Mecocci, P. and Melle, I. and Meyer-Lindenberg, A. and Mohnke, S. and Montgomery, G. W. and Morris, D. W. and Mosley, T. H. and M?hleisen, T. W. and M?ller-Myhsok, B. and Nalls, M. A. and Nauck, M. and Nichols, T. E. and Niessen, W. J. and N?then, M. M. and Nyberg, L. and Ohi, K. and Olvera, R. L. and Ophoff, R. A. and Pandolfo, M. and Paus, T. and Pausova, Z. and Penninx, B. W. J. H. and Pike, G. B. and Potkin, S. G. and Psaty, B. M. and Reppermund, S. and Rietschel, M. and Roffman, J. L. and Romanczuk-Seiferth, N. and Rotter, J. I. and Ryten, M. and Sacco, R. L. and Sachdev, P. S. and Saykin, A. J. and Schmidt, R. and Schmidt, H. and Schofield, P. R. and Sigursson, S. and Simmons, A. and Singleton, A. and Sisodiya, S. M. and Smith, C. and Smoller, J. W. and Soininen, H. and Steen, V. M. and Stott, D. J. and Sussmann, J. E. and Thalamuthu, A. and Toga, A. W. and Traynor, B. J. and Troncoso, J. and Tsolaki, M. and Tzourio, C. and Uitterlinden, A. G. and Hern?ndez, M. C. V. and Van der Brug, M. and van der Lugt, A. and Van der Wee, N. J. A. and van Haren, N. E. M. and van {\textquoteright}t Ent, D. and van Tol, M. J. and Vardarajan, B. N. and Vellas, B. and Veltman, D. J. and V?lzke, H. and Walter, H. and Wardlaw, J. M. and Wassink, T. H. and Weale, M. E. and Weinberger, D. R. and Weiner, M. W. and Wen, W. and Westman, E. and White, T. and Wong, T. Y. and Wright, C. B. and Zielke, R. H. and Zonderman, A. B. and Martin, N. G. and van Duijn, C. M. and Wright, M. J. and Longstreth, W. T. and Schumann, G. and Grabe, H. J. and Franke, B. and Launer, L. J. and Medland, S. E. and Seshadri, S. and Thompson, P. M. and Ikram, M. A.}
}
@article {8521,
	title = {{Association of dietary folate and vitamin B-12 intake with genome-wide DNA methylation in blood: a large-scale epigenome-wide association analysis in 5841 individuals},
	journal = {Am J Clin Nutr},
	volume = {110},
	year = {2019},
	month = {08},
	pages = {437{\textendash}450},
	abstract = {Folate and vitamin B-12 are essential micronutrients involved in the donation of methyl groups in cellular metabolism. However, associations between intake of these nutrients and genome-wide DNA methylation levels have not been studied comprehensively in humans.\ The aim of this study was to assess whether folate and/or vitamin B-12 intake are asssociated with genome-wide changes in DNA methylation in leukocytes.\ A large-scale epigenome-wide association study of folate and vitamin B-12 intake was performed on DNA from 5841 participants from 10 cohorts using Illumina 450k arrays. Folate and vitamin B-12 intakes were calculated from food-frequency questionnaires (FFQs). Continuous and categorical (low compared with high intake) linear regression mixed models were applied per cohort, controlling for confounders. A meta-analysis was performed to identify significant differentially methylated positions (DMPs) and regions (DMRs), and a pathway analysis was performed on the DMR annotated genes.\ The categorical model resulted in 6 DMPs, which are all negatively associated with folate intake, annotated to FAM64A, WRAP73, FRMD8, CUX1, and LCN8 genes, which have a role in cellular processes including centrosome localization, cell proliferation, and tumorigenesis. Regional analysis showed 74 folate-associated DMRs, of which 73 were negatively associated with folate intake. The most significant folate-associated DMR was a 400-base pair (bp) spanning region annotated to the LGALS3BP gene. In the categorical model, vitamin B-12 intake was associated with 29 DMRs annotated to 48 genes, of which the most significant was a 1100-bp spanning region annotated to the calcium-binding tyrosine phosphorylation-regulated gene (CABYR). Vitamin B-12 intake was not associated with DMPs.\ We identified novel epigenetic loci that are associated with folate and vitamin B-12 intake. Interestingly, we found a negative association between folate and DNA methylation. Replication of these methylation loci is necessary in future studies.},
	author = {Mandaviya, P. R. and Joehanes, R. and Brody, J. and Castillo-Fernandez, J. E. and Dekkers, K. F. and Do, A. N. and Graff, M. and H?nninen, I. K. and Tanaka, T. and de Jonge, E. A. L. and Kiefte-de Jong, J. C. and Absher, D. M. and Aslibekyan, S. and de Rijke, Y. B. and Fornage, M. and Hernandez, D. G. and Hurme, M. A. and Ikram, M. A. and Jacques, P. F. and Justice, A. E. and Kiel, D. P. and Lemaitre, R. N. and Mendelson, M. M. and Mikkil?, V. and Moore, A. Z. and Pallister, T. and Raitakari, O. T. and Schalkwijk, C. G. and Sha, J. and Slagboom, E. P. E. and Smith, C. E. and Stehouwer, C. D. A. and Tsai, P. C. and Uitterlinden, A. G. and van der Kallen, C. J. H. and van Heemst, D. and Arnett, D. K. and Bandinelli, S. and Bell, J. T. and Heijmans, B. T. and Lehtim?ki, T. and Levy, D. and North, K. E. and Sotoodehnia, N. and van Greevenbroek, M. M. J. and van Meurs, J. B. J. and Heil, S. G.}
}
@article {8527,
	title = {{Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels},
	journal = {Circulation},
	volume = {139},
	year = {2019},
	month = {01},
	pages = {620{\textendash}635},
	abstract = {Factor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are associated with risk of arterial and venous thrombosis and with hemorrhagic disorders. We aimed to identify and functionally test novel genetic associations regulating plasma FVIII and VWF.\ We meta-analyzed genome-wide association results from 46 354 individuals of European, African, East Asian, and Hispanic ancestry. All studies performed linear regression analysis using an additive genetic model and associated {\^a}{\textperthousand}{\textasciicircum}35 million imputed variants with natural log-transformed phenotype levels. In vitro gene silencing in cultured endothelial cells was performed for candidate genes to provide additional evidence on association and function. Two-sample Mendelian randomization analyses were applied to test the causal role of FVIII and VWF plasma levels on the risk of arterial and venous thrombotic events.\ We identified 13 novel genome-wide significant ( P{\^a}{\textperthousand}¤2.5{\~A}{\textemdash}10-8) associations, 7 with FVIII levels ( FCHO2/TMEM171/TNPO1, HLA, SOX17/RP1, LINC00583/NFIB, RAB5C-KAT2A, RPL3/TAB1/SYNGR1, and ARSA) and 11 with VWF levels ( PDHB/PXK/KCTD6, SLC39A8, FCHO2/TMEM171/TNPO1, HLA, GIMAP7/GIMAP4, OR13C5/NIPSNAP, DAB2IP, C2CD4B, RAB5C-KAT2A, TAB1/SYNGR1, and ARSA), beyond 10 previously reported associations with these phenotypes. Functional validation provided further evidence of association for all loci on VWF except ARSA and DAB2IP. Mendelian randomization suggested causal effects of plasma FVIII activity levels on venous thrombosis and coronary artery disease risk and plasma VWF levels on ischemic stroke risk.\ The meta-analysis identified 13 novel genetic loci regulating FVIII and VWF plasma levels, 10 of which we validated functionally. We provide some evidence for a causal role of these proteins in thrombotic events.},
	author = {Sabater-Lleal, M. and Huffman, J. E. and de Vries, P. S. and Marten, J. and Mastrangelo, M. A. and Song, C. and Pankratz, N. and Ward-Caviness, C. K. and Yanek, L. R. and Trompet, S. and Delgado, G. E. and Guo, X. and Bartz, T. M. and Martinez-Perez, A. and Germain, M. and de Haan, H. G. and Ozel, A. B. and Polasek, O. and Smith, A. V. and Eicher, J. D. and Reiner, A. P. and Tang, W. and Davies, N. M. and Stott, D. J. and Rotter, J. I. and Tofler, G. H. and Boerwinkle, E. and de Maat, M. P. M. and Kleber, M. E. and Welsh, P. and Brody, J. A. and Chen, M. H. and Vaidya, D. and Soria, J. M. and Suchon, P. and van Hylckama Vlieg, A. and Desch, K. C. and Kolcic, I. and Joshi, P. K. and Launer, L. J. and Harris, T. B. and Campbell, H. and Rudan, I. and Becker, D. M. and Li, J. Z. and Rivadeneira, F. and Uitterlinden, A. G. and Hofman, A. and Franco, O. H. and Cushman, M. and Psaty, B. M. and Morange, P. E. and McKnight, B. and Chong, M. R. and Fernandez-Cadenas, I. and Rosand, J. and Lindgren, A. and Gudnason, V. and Wilson, J. F. and Hayward, C. and Ginsburg, D. and Fornage, M. and Rosendaal, F. R. and Souto, J. C. and Becker, L. C. and Jenny, N. S. and M?rz, W. and Jukema, J. W. and Dehghan, A. and Tr?gou?t, D. A. and Morrison, A. C. and Johnson, A. D. and O{\textquoteright}Donnell, C. J. and Strachan, D. P. and Lowenstein, C. J. and Smith, N. L.}
}
@article {8281,
	title = {{A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure},
	journal = {Hum. Mol. Genet.},
	year = {2019},
	month = {Apr},
	abstract = {Elevated blood pressure (BP), a leading cause of global morbidity and mortality, is influenced by both genetic and lifestyle factors. Cigarette smoking is one such lifestyle factor. Across five ancestries, we performed a genome-wide gene-smoking interaction study of mean arterial pressure (MAP) and pulse pressure (PP) in 129 913 individuals in stage 1 and follow-up analysis in 480 178 additional individuals in stage 2. We report here 136 loci significantly associated with MAP and/or PP. Of these, 61 were previously published through main-effect analysis of BP traits, 37 were recently reported by us for systolic BP and/or diastolic BP through gene-smoking interaction analysis and 38 were newly identified (P < 5 {\~A}{\textemdash} 10-8, false discovery rate < 0.05). We also identified nine new signals near known loci. Of the 136 loci, 8 showed significant interaction with smoking status. They include CSMD1 previously reported for insulin resistance and BP in the spontaneously hypertensive rats. Many of the 38 new loci show biologic plausibility for a role in BP regulation. SLC26A7 encodes a chloride/bicarbonate exchanger expressed in the renal outer medullary collecting duct. AVPR1A is widely expressed, including in vascular smooth muscle cells, kidney, myocardium and brain. FHAD1 is a long non-coding RNA overexpressed in heart failure. TMEM51 was associated with contractile function in cardiomyocytes. CASP9 plays a central role in cardiomyocyte apoptosis. Identified only in African ancestry were 30 novel loci. Our findings highlight the value of multi-ancestry investigations, particularly in studies of interaction with lifestyle factors, where genomic and lifestyle differences may contribute to novel findings.},
	author = {Sung, Y. J. and de Las Fuentes, L. and Winkler, T. W. and Chasman, D. I. and Bentley, A. R. and Kraja, A. T. and Ntalla, I. and Warren, H. R. and Guo, X. and Schwander, K. and Manning, A. K. and Brown, M. R. and Aschard, H. and Feitosa, M. F. and Franceschini, N. and Lu, Y. and Cheng, C. Y. and Sim, X. and Vojinovic, D. and Marten, J. and Musani, S. K. and Kilpel?inen, T. O. and Richard, M. A. and Aslibekyan, S. and Bartz, T. M. and Dorajoo, R. and Li, C. and Liu, Y. and Rankinen, T. and Smith, A. V. and Tajuddin, S. M. and Tayo, B. O. and Zhao, W. and Zhou, Y. and Matoba, N. and Sofer, T. and Alver, M. and Amini, M. and Boissel, M. and Chai, J. F. and Chen, X. and Divers, J. and Gandin, I. and Gao, C. and Giulianini, F. and Goel, A. and Harris, S. E. and Hartwig, F. P. and He, M. and Horimoto, A. R. V. R. and Hsu, F. C. and Jackson, A. U. and Kammerer, C. M. and Kasturiratne, A. and Komulainen, P. and K?hnel, B. and Leander, K. and Lee, W. J. and Lin, K. H. and Luan, J. and Lyytik?inen, L. P. and McKenzie, C. A. and Nelson, C. P. and Noordam, R. and Scott, R. A. and Sheu, W. H. H. and Stan??kov?, A. and Takeuchi, F. and van der Most, P. J. and Varga, T. V. and Waken, R. J. and Wang, H. and Wang, Y. and Ware, E. B. and Weiss, S. and Wen, W. and Yanek, L. R. and Zhang, W. and Zhao, J. H. and Afaq, S. and Alfred, T. and Amin, N. and Arking, D. E. and Aung, T. and Barr, R. G. and Bielak, L. F. and Boerwinkle, E. and Bottinger, E. P. and Braund, P. S. and Brody, J. A. and Broeckel, U. and Cade, B. and Campbell, A. and Canouil, M. and Chakravarti, A. and Cocca, M. and Collins, F. S. and Connell, J. M. and de Mutsert, R. and de Silva, H. J. and D?rr, M. and Duan, Q. and Eaton, C. B. and Ehret, G. and Evangelou, E. and Faul, J. D. and Forouhi, N. G. and Franco, O. H. and Friedlander, Y. and Gao, H. and Gigante, B. and Gu, C. C. and Gupta, P. and Hagenaars, S. P. and Harris, T. B. and He, J. and Heikkinen, S. and Heng, C. K. and Hofman, A. and Howard, B. V. and Hunt, S. C. and Irvin, M. R. and Jia, Y. and Katsuya, T. and Kaufman, J. and Kerrison, N. D. and Khor, C. C. and Koh, W. P. and Koistinen, H. A. and Kooperberg, C. B. and Krieger, J. E. and Kubo, M. and Kutalik, Z. and Kuusisto, J. and Lakka, T. A. and Langefeld, C. D. and Langenberg, C. and Launer, L. J. and Lee, J. H. and Lehne, B. and Levy, D. and Lewis, C. E. and Li, Y. and Lim, S. H. and Liu, C. T. and Liu, J. and Liu, J. and Liu, Y. and Loh, M. and Lohman, K. K. and Louie, T. and M?gi, R. and Matsuda, K. and Meitinger, T. and Metspalu, A. and Milani, L. and Momozawa, Y. and Mosley, T. H. and Nalls, M. A. and Nasri, U. and O{\textquoteright}Connell, J. R. and Ogunniyi, A. and Palmas, W. R. and Palmer, N. D. and Pankow, J. S. and Pedersen, N. L. and Peters, A. and Peyser, P. A. and Polasek, O. and Porteous, D. and Raitakari, O. T. and Renstr?m, F. and Rice, T. K. and Ridker, P. M. and Robino, A. and Robinson, J. G. and Rose, L. M. and Rudan, I. and Sabanayagam, C. and Salako, B. L. and Sandow, K. and Schmidt, C. O. and Schreiner, P. J. and Scott, W. R. and Sever, P. and Sims, M. and Sitlani, C. M. and Smith, B. H. and Smith, J. A. and Snieder, H. and Starr, J. M. and Strauch, K. and Tang, H. and Taylor, K. D. and Teo, Y. Y. and Tham, Y. C. and Uitterlinden, A. G. and Waldenberger, M. and Wang, L. and Wang, Y. X. and Wei, W. B. and Wilson, G. and Wojczynski, M. K. and Xiang, Y. B. and Yao, J. and Yuan, J. M. and Zonderman, A. B. and Becker, D. M. and Boehnke, M. and Bowden, D. W. and Chambers, J. C. and Chen, Y. I. and Weir, D. R. and de Faire, U. and Deary, I. J. and Esko, T. and Farrall, M. and Forrester, T. and Freedman, B. I. and Froguel, P. and Gasparini, P. and Gieger, C. and Horta, B. L. and Hung, Y. J. and Jonas, J. B. and Kato, N. and Kooner, J. S. and Laakso, M. and Lehtim?ki, T. and Liang, K. W. and Magnusson, P. K. E. and Oldehinkel, A. J. and Pereira, A. C. and Perls, T. and Rauramaa, R. and Redline, S. and Rettig, R. and Samani, N. J. and Scott, J. and Shu, X. O. and van der Harst, P. and Wagenknecht, L. E. and Wareham, N. J. and Watkins, H. and Wickremasinghe, A. R. and Wu, T. and Kamatani, Y. and Laurie, C. C. and Bouchard, C. and Cooper, R. S. and Evans, M. K. and Gudnason, V. and Hixson, J. and Kardia, S. L. R. and Kritchevsky, S. B. and Psaty, B. M. and van Dam, R. M. and Arnett, D. K. and Mook-Kanamori, D. O. and Fornage, M. and Fox, E. R. and Hayward, C. and van Duijn, C. M. and Tai, E. S. and Wong, T. Y. and Loos, R. J. F. and Reiner, A. P. and Rotimi, C. N. and Bierut, L. J. and Zhu, X. and Cupples, L. A. and Province, M. A. and Rotter, J. I. and Franks, P. W. and Rice, K. and Elliott, P. and Caulfield, M. J. and Gauderman, W. J. and Munroe, P. B. and Rao, D. C. and Morrison, A. C.}
}
@article {8532,
	title = {{Omega-3 Fatty Acids and Genome-Wide Interaction Analyses Reveal DPP10-Pulmonary Function Association},
	journal = {Am J Respir Crit Care Med},
	volume = {199},
	year = {2019},
	month = {03},
	pages = {631{\textendash}642},
	abstract = {Omega-3 polyunsaturated fatty acids (n-3 PUFAs) have anti-inflammatory properties that could benefit adults with comprised pulmonary health.\ To investigate n-3 PUFA associations with spirometric measures of pulmonary function tests (PFTs) and determine underlying genetic susceptibility.\ Associations of n-3 PUFA biomarkers ({\^I}{\textpm}-linolenic acid, eicosapentaenoic acid, docosapentaenoic acid [DPA], and docosahexaenoic acid [DHA]) were evaluated with PFTs (FEV1, FVC, and FEV1/FVC) in meta-analyses across seven cohorts from the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (N = 16,134 of European or African ancestry). PFT-associated n-3 PUFAs were carried forward to genome-wide interaction analyses in the four largest cohorts (N = 11,962) and replicated in one cohort (N = 1,687). Cohort-specific results were combined using joint 2 degree-of-freedom (2df) meta-analyses of SNP associations and their interactions with n-3 PUFAs.\ DPA and DHA were positively associated with FEV1 and FVC (P < 0.025), with evidence for effect modification by smoking and by sex. Genome-wide analyses identified a novel association of rs11693320-an intronic DPP10 SNP-with FVC when incorporating an interaction with DHA, and the finding was replicated (P2df = 9.4 {\~A}{\textemdash} 10-9 across discovery and replication cohorts). The rs11693320-A allele (frequency, {\^a}{\textasciicircum}{\textonequarter}80\%) was associated with lower FVC (PSNP = 2.1 {\~A}{\textemdash} 10-9; {\^I}{\texttwosuperior}SNP = -161.0 ml), and the association was attenuated by higher DHA levels (PSNP{\~A}{\textemdash}DHA interaction = 2.1 {\~A}{\textemdash} 10-7; {\^I}{\texttwosuperior}SNP{\~A}{\textemdash}DHA interaction = 36.2 ml).\ We corroborated beneficial effects of n-3 PUFAs on pulmonary function. By modeling genome-wide n-3 PUFA interactions, we identified a novel DPP10 SNP association with FVC that was not detectable in much larger studies ignoring this interaction.},
	author = {Xu, J. and Gaddis, N. C. and Bartz, T. M. and Hou, R. and Manichaikul, A. W. and Pankratz, N. and Smith, A. V. and Sun, F. and Terzikhan, N. and Markunas, C. A. and Patchen, B. K. and Schu, M. and Beydoun, M. A. and Brusselle, G. G. and Eiriksdottir, G. and Zhou, X. and Wood, A. C. and Graff, M. and Harris, T. B. and Ikram, M. A. and Jacobs, D. R. and Launer, L. J. and Lemaitre, R. N. and O{\textquoteright}Connor, G. T. and Oelsner, E. C. and Psaty, B. M. and Vasan, R. S. and Rohde, R. R. and Rich, S. S. and Rotter, J. I. and Seshadri, S. and Smith, L. J. and Tiemeier, H. and Tsai, M. Y. and Uitterlinden, A. G. and Voruganti, V. S. and Xu, H. and Zilh?o, N. R. and Fornage, M. and Zillikens, M. C. and London, S. J. and Barr, R. G. and Dupuis, J. and Gharib, S. A. and Gudnason, V. and Lahousse, L. and North, K. E. and Steffen, L. M. and Cassano, P. A. and Hancock, D. B.}
}
@article {8634,
	title = {{Cerebral small vessel disease genomics and its implications across the lifespan},
	journal = {Nat Commun},
	volume = {11},
	year = {2020},
	month = {12},
	pages = {6285},
	abstract = {White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.5{\~A}{\textemdash}10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volume, notably also in persons without clinical hypertension. Transcriptome-wide colocalization analyses showed association of WMH-volume with expression of 39 genes, of which four encode known drug targets. Finally, we provide insight into BP-independent biological pathways underlying SVD and suggest potential for genetic stratification of high-risk individuals and for genetically-informed prioritization of drug targets for prevention trials.},
	author = {Sargurupremraj, M. and Suzuki, H. and Jian, X. and Sarnowski, C. and Evans, T. E. and Bis, J. C. and Eiriksdottir, G. and Sakaue, S. and Terzikhan, N. and Habes, M. and Zhao, W. and Armstrong, N. J. and Hofer, E. and Yanek, L. R. and Hagenaars, S. P. and Kumar, R. B. and van den Akker, E. B. and McWhirter, R. E. and Trompet, S. and Mishra, A. and Saba, Y. and Satizabal, C. L. and Beaudet, G. and Petit, L. and Tsuchida, A. and Zago, L. and Schilling, S. and Sigurdsson, S. and Gottesman, R. F. and Lewis, C. E. and Aggarwal, N. T. and Lopez, O. L. and Smith, J. A. and Vald?s Hern?ndez, M. C. and van der Grond, J. and Wright, M. J. and Knol, M. J. and D?rr, M. and Thomson, R. J. and Bordes, C. and Le Grand, Q. and Duperron, M. G. and Smith, A. V. and Knopman, D. S. and Schreiner, P. J. and Evans, D. A. and Rotter, J. I. and Beiser, A. S. and Maniega, S. M. and Beekman, M. and Trollor, J. and Stott, D. J. and Vernooij, M. W. and Wittfeld, K. and Niessen, W. J. and Soumar?, A. and Boerwinkle, E. and Sidney, S. and Turner, S. T. and Davies, G. and Thalamuthu, A. and V?lker, U. and van Buchem, M. A. and Bryan, R. N. and Dupuis, J. and Bastin, M. E. and Ames, D. and Teumer, A. and Amouyel, P. and Kwok, J. B. and B?low, R. and Deary, I. J. and Schofield, P. R. and Brodaty, H. and Jiang, J. and Tabara, Y. and Setoh, K. and Miyamoto, S. and Yoshida, K. and Nagata, M. and Kamatani, Y. and Matsuda, F. and Psaty, B. M. and Bennett, D. A. and De Jager, P. L. and Mosley, T. H. and Sachdev, P. S. and Schmidt, R. and Warren, H. R. and Evangelou, E. and Tr?gou?t, D. A. and Ikram, M. A. and Wen, W. and DeCarli, C. and Srikanth, V. K. and Jukema, J. W. and Slagboom, E. P. and Kardia, S. L. R. and Okada, Y. and Mazoyer, B. and Wardlaw, J. M. and Nyquist, P. A. and Mather, K. A. and Grabe, H. J. and Schmidt, H. and van Duijn, C. M. and Gudnason, V. and Longstreth, W. T. and Launer, L. J. and Lathrop, M. and Seshadri, S. and Tzourio, C. and Adams, H. H. and Matthews, P. M. and Fornage, M. and Debette, S. and Amouyel, P. and de Andrade, M. and Basu, S. and Berr, C. and Brody, J. A. and Chasman, D. I. and Dartigues, J. F. and Folsom, A. R. and Germain, M. and de Haan, H. and Heit, J. and Houwing-Duitermaat, J. and Kabrhel, C. and Kraft, P. and Legal, G. and Lindstr?m, S. and Monajemi, R. and Morange, P. E. and Psaty, B. M. and Reitsma, P. H. and Ridker, P. M. and Rose, L. M. and Rosendaal, F. R. and Saut, N. and Slagboom, E. and Smadja, D. and Smith, N. L. and Suchon, P. and Tang, W. and Taylor, K. D. and Tr?gou?t, D. A. and Tzourio, C. and de Visser, M. C. H. and van Hylckama Vlieg, A. and Weng, L. C. and Wiggins, K. L. and Gormley, P. and Anttila, V. and Winsvold, B. S. and Palta, P. and Esko, T. and Pers, T. H. and Farh, K. H. and Cuenca-Leon, E. and Muona, M. and Furlotte, N. A. and Kurth, T. and Ingason, A. and McMahon, G. and Ligthart, L. and Terwindt, G. M. and Kallela, M. and Freilinger, T. M. and Ran, C. and Gordon, S. G. and Stam, A. H. and Steinberg, S. and Borck, G. and Koiranen, M. and Quaye, L. and Adams, H. H. H. and Lehtim?ki, T. and Sarin, A. P. and Wedenoja, J. and Hinds, D. A. and Buring, J. E. and Sch?rks, M. and Ridker, P. M. and Gudlaug Hrafnsdottir, M. and Stefansson, H. and Ring, S. M. and Hottenga, J. J. and Penninx, B. W. J. H. and F?rkkil?, M. and Artto, V. and Kaunisto, M. and Veps?l?inen, S. and Malik, R. and Heath, A. C. and Madden, P. A. F. and Martin, N. G. and Montgomery, G. W. and Kurki, M. and Kals, M. and M?gi, R. and P?rn, K. and H?m?l?inen, E. and Huang, H. and Byrnes, A. E. and Franke, L. and Huang, J. and Stergiakouli, E. and Lee, P. H. and Sandor, C. and Webber, C. and Cader, Z. and Muller-Myhsok, B. and Schreiber, S. and Meitinger, T. and Eriksson, J. G. and Salomaa, V. and Heikkil?, K. and Loehrer, E. and Uitterlinden, A. G. and Hofman, A. and van Duijn, C. M. and Cherkas, L. and Pedersen, L. M. and Stubhaug, A. and Nielsen, C. S. and M?nnikk?, M. and Mihailov, E. and Milani, L. and G?bel, H. and Esserlind, A. L. and Francke Christensen, A. and Folkmann Hansen, T. and Werge, T. and Kaprio, J. and Aromaa, A. J. and Raitakari, O. and Ikram, M. A. and Spector, T. and J?rvelin, M. R. and Metspalu, A. and Kubisch, C. and Strachan, D. P. and Ferrari, M. D. and Belin, A. C. and Dichgans, M. and Wessman, M. and van den Maagdenberg, A. M. J. M. and Zwart, J. A. and Boomsma, D. I. and Davey Smith, G. and Stefansson, K. and Eriksson, N. and Daly, M. J. and Neale, B. M. and Olesen, J. and Chasman, D. I. and Nyholt, D. R. and Palotie, A.}
}
@article {8636,
	title = {{Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals},
	journal = {Nat Genet},
	volume = {52},
	year = {2020},
	month = {12},
	pages = {1314{\textendash}1332},
	abstract = {Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to  1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency {\^a}{\textperthousand}¤ 0.01) variant BP associations (P < 5 {\~A}{\textemdash} 10-8), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated regions. Average effects of rare variants (44\% coding) were  8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci (for example, GATA5 and PLCB3). BP-associated variants (including rare and common) were enriched in regions of active chromatin in fetal tissues, potentially linking fetal development with BP regulation in later life. Multivariable Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic BP on large artery stroke. Our study demonstrates the utility of rare-variant analyses for identifying candidate genes and the results highlight potential therapeutic targets.},
	author = {Surendran, P. and Feofanova, E. V. and Lahrouchi, N. and Ntalla, I. and Karthikeyan, S. and Cook, J. and Chen, L. and Mifsud, B. and Yao, C. and Kraja, A. T. and Cartwright, J. H. and Hellwege, J. N. and Giri, A. and Tragante, V. and Thorleifsson, G. and Liu, D. J. and Prins, B. P. and Stewart, I. D. and Cabrera, C. P. and Eales, J. M. and Akbarov, A. and Auer, P. L. and Bielak, L. F. and Bis, J. C. and Braithwaite, V. S. and Brody, J. A. and Daw, E. W. and Warren, H. R. and Drenos, F. and Nielsen, S. F. and Faul, J. D. and Fauman, E. B. and Fava, C. and Ferreira, T. and Foley, C. N. and Franceschini, N. and Gao, H. and Giannakopoulou, O. and Giulianini, F. and Gudbjartsson, D. F. and Guo, X. and Harris, S. E. and Havulinna, A. S. and Helgadottir, A. and Huffman, J. E. and Hwang, S. J. and Kanoni, S. and Kontto, J. and Larson, M. G. and Li-Gao, R. and Lindstr?m, J. and Lotta, L. A. and Lu, Y. and Luan, J. and Mahajan, A. and Malerba, G. and Masca, N. G. D. and Mei, H. and Menni, C. and Mook-Kanamori, D. O. and Mosen-Ansorena, D. and M?ller-Nurasyid, M. and Par?, G. and Paul, D. S. and Perola, M. and Poveda, A. and Rauramaa, R. and Richard, M. and Richardson, T. G. and Sep?lveda, N. and Sim, X. and Smith, A. V. and Smith, J. A. and Staley, J. R. and Stan?kov?, A. and Sulem, P. and Th?riault, S. and Thorsteinsdottir, U. and Trompet, S. and Varga, T. V. and Velez Edwards, D. R. and Veronesi, G. and Weiss, S. and Willems, S. M. and Yao, J. and Young, R. and Yu, B. and Zhang, W. and Zhao, J. H. and Zhao, W. and Zhao, W. and Evangelou, E. and Aeschbacher, S. and Asllanaj, E. and Blankenberg, S. and Bonnycastle, L. L. and Bork-Jensen, J. and Brandslund, I. and Braund, P. S. and Burgess, S. and Cho, K. and Christensen, C. and Connell, J. and Mutsert, R. and Dominiczak, A. F. and D?rr, M. and Eiriksdottir, G. and Farmaki, A. E. and Gaziano, J. M. and Grarup, N. and Grove, M. L. and Hallmans, G. and Hansen, T. and Have, C. T. and Heiss, G. and J?rgensen, M. E. and Jousilahti, P. and Kajantie, E. and Kamat, M. and K?r?j?m?ki, A. and Karpe, F. and Koistinen, H. A. and Kovesdy, C. P. and Kuulasmaa, K. and Laatikainen, T. and Lannfelt, L. and Lee, I. T. and Lee, W. J. and Linneberg, A. and Martin, L. W. and Moitry, M. and Nadkarni, G. and Neville, M. J. and Palmer, C. N. A. and Papanicolaou, G. J. and Pedersen, O. and Peters, J. and Poulter, N. and Rasheed, A. and Rasmussen, K. L. and Rayner, N. W. and M?gi, R. and Renstr?m, F. and Rettig, R. and Rossouw, J. and Schreiner, P. J. and Sever, P. S. and Sigurdsson, E. L. and Skaaby, T. and Sun, Y. V. and Sundstrom, J. and Thorgeirsson, G. and Esko, T. and Trabetti, E. and Tsao, P. S. and Tuomi, T. and Turner, S. T. and Tzoulaki, I. and Vaartjes, I. and Vergnaud, A. C. and Willer, C. J. and Wilson, P. W. F. and Witte, D. R. and Yonova-Doing, E. and Zhang, H. and Aliya, N. and Almgren, P. and Amouyel, P. and Asselbergs, F. W. and Barnes, M. R. and Blakemore, A. I. and Boehnke, M. and Bots, M. L. and Bottinger, E. P. and Buring, J. E. and Chambers, J. C. and Chen, Y. I. and Chowdhury, R. and Conen, D. and Correa, A. and Davey Smith, G. and Boer, R. A. and Deary, I. J. and Dedoussis, G. and Deloukas, P. and Di Angelantonio, E. and Elliott, P. and Felix, S. B. and Ferri?res, J. and Ford, I. and Fornage, M. and Franks, P. W. and Franks, S. and Frossard, P. and Gambaro, G. and Gaunt, T. R. and Groop, L. and Gudnason, V. and Harris, T. B. and Hayward, C. and Hennig, B. J. and Herzig, K. H. and Ingelsson, E. and Tuomilehto, J. and J?rvelin, M. R. and Jukema, J. W. and Kardia, S. L. R. and Kee, F. and Kooner, J. S. and Kooperberg, C. and Launer, L. J. and Lind, L. and Loos, R. J. F. and Majumder, A. A. S. and Laakso, M. and McCarthy, M. I. and Melander, O. and Mohlke, K. L. and Murray, A. D. and Nordestgaard, B. G. and Orho-Melander, M. and Packard, C. J. and Padmanabhan, S. and Palmas, W. and Polasek, O. and Porteous, D. J. and Prentice, A. M. and Province, M. A. and Relton, C. L. and Rice, K. and Ridker, P. M. and Rolandsson, O. and Rosendaal, F. R. and Rotter, J. I. and Rudan, I. and Salomaa, V. and Samani, N. J. and Sattar, N. and Sheu, W. H. and Smith, B. H. and Soranzo, N. and Spector, T. D. and Starr, J. M. and Sebert, S. and Taylor, K. D. and Lakka, T. A. and Timpson, N. J. and Tobin, M. D. and van der Harst, P. and van der Meer, P. and Ramachandran, V. S. and Verweij, N. and Virtamo, J. and V?lker, U. and Weir, D. R. and Zeggini, E. and Charchar, F. J. and Wareham, N. J. and Langenberg, C. and Tomaszewski, M. and Butterworth, A. S. and Caulfield, M. J. and Danesh, J. and Edwards, T. L. and Holm, H. and Hung, A. M. and Lindgren, C. M. and Liu, C. and Manning, A. K. and Morris, A. P. and Morrison, A. C. and O{\textquoteright}Donnell, C. J. and Psaty, B. M. and Saleheen, D. and Stefansson, K. and Boerwinkle, E. and Chasman, D. I. and Levy, D. and Newton-Cheh, C. and Munroe, P. B. and Howson, J. M. M. and de Boer, R. A. and van der Harst, P. and van der Meer, P. and Verweij, N. and Butterworth, A. S. and Danesh, J. and Langenberg, C. and Deloukas, P. and McCarthy, M. I. and Franks, P. W. and Rolandsson, O. and Wareham, N. J. and Prins, B. P. and Zeggini, E. and Hellwege, J. N. and Giri, A. and Edwards, D. R. V. and Cho, K. and Gaziano, J. M. and Kovesdy, C. P. and Sun, Y. V. and Tsao, P. S. and Wilson, P. W. F. and Edwards, T. L. and Hung, A. M. and O{\textquoteright}Donnell, C. J.}
}
@article {8453,
	title = {{Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale},
	journal = {Nat Genet},
	volume = {52},
	year = {2020},
	month = {Sep},
	pages = {969{\textendash}983},
	abstract = {Large-scale whole-genome sequencing studies have enabled the analysis of rare variants (RVs) associated with complex phenotypes. Commonly used RV association tests have limited scope to leverage variant functions. We propose STAAR (variant-set test for association using annotation information), a scalable and powerful RV association test method that effectively incorporates both variant categories and multiple complementary annotations using a dynamic weighting scheme. For the latter, we introduce {\textquoteright}annotation principal components{\textquoteright}, multidimensional summaries of in silico variant annotations. STAAR accounts for population structure and relatedness and is scalable for analyzing very large cohort and biobank whole-genome sequencing studies of continuous and dichotomous traits. We applied STAAR to identify RVs associated with four lipid traits in 12,316 discovery and 17,822 replication samples from the Trans-Omics for Precision Medicine Program. We discovered and replicated new RV associations, including disruptive missense RVs of NPC1L1 and an intergenic region near APOC1P1 associated with low-density lipoprotein cholesterol.},
	author = {Li, X. and Li, Z. and Zhou, H. and Gaynor, S. M. and Liu, Y. and Chen, H. and Sun, R. and Dey, R. and Arnett, D. K. and Aslibekyan, S. and Ballantyne, C. M. and Bielak, L. F. and Blangero, J. and Boerwinkle, E. and Bowden, D. W. and Broome, J. G. and Conomos, M. P. and Correa, A. and Cupples, L. A. and Curran, J. E. and Freedman, B. I. and Guo, X. and Hindy, G. and Irvin, M. R. and Kardia, S. L. R. and Kathiresan, S. and Khan, A. T. and Kooperberg, C. L. and Laurie, C. C. and Liu, X. S. and Mahaney, M. C. and Manichaikul, A. W. and Martin, L. W. and Mathias, R. A. and McGarvey, S. T. and Mitchell, B. D. and Montasser, M. E. and Moore, J. E. and Morrison, A. C. and O{\textquoteright}Connell, J. R. and Palmer, N. D. and Pampana, A. and Peralta, J. M. and Peyser, P. A. and Psaty, B. M. and Redline, S. and Rice, K. M. and Rich, S. S. and Smith, J. A. and Tiwari, H. K. and Tsai, M. Y. and Vasan, R. S. and Wang, F. F. and Weeks, D. E. and Weng, Z. and Wilson, J. G. and Yanek, L. R. and Neale, B. M. and Sunyaev, S. R. and Abecasis, G. R. and Rotter, J. I. and Willer, C. J. and Peloso, G. M. and Natarajan, P. and Lin, X. and Abe, N. and Abecasis, G. R. and Aguet, F. and Albert, C. and Almasy, L. and Alonso, A. and Ament, S. and Anderson, P. and Anugu, P. and Applebaum-Bowden, D. and Ardlie, K. and Arking, D. and Arnett, D. K. and Ashley-Koch, A. and Aslibekyan, S. and Assimes, T. and Auer, P. and Avramopoulos, D. and Barnard, J. and Barnes, K. and Barr, R. G. and Barron-Casella, E. and Barwick, L. and Beaty, T. and Beck, G. and Becker, D. and Becker, L. and Beer, R. and Beitelshees, A. and Benjamin, E. and Benos, T. and Bezerra, M. and Bielak, L. F. and Bis, J. and Blackwell, T. and Blangero, J. and Boerwinkle, E. and Bowden, D. W. and Bowler, R. and Brody, J. and Broeckel, U. and Broome, J. G. and Bunting, K. and Burchard, E. and Bustamante, C. and Buth, E. and Cade, B. and Cardwell, J. and Carey, V. and Carty, C. and Casaburi, R. and Casella, J. and Castaldi, P. and Chaffin, M. and Chang, C. and Chang, Y. C. and Chasman, D. and Chavan, S. and Chen, B. J. and Chen, W. M. and Chen, Y. I. and Cho, M. and Choi, S. H. and Chuang, L. M. and Chung, M. and Chung, R. H. and Clish, C. and Comhair, S. and Conomos, M. P. and Cornell, E. and Correa, A. and Crandall, C. and Crapo, J. and Cupples, L. A. and Curran, J. E. and Curtis, J. and Custer, B. and Damcott, C. and Darbar, D. and Das, S. and David, S. and Davis, C. and Daya, M. and de Andrade, M. and Fuentes, L. L. and DeBaun, M. and Deka, R. and DeMeo, D. and Devine, S. and Duan, Q. and Duggirala, R. and Durda, J. P. and Dutcher, S. and Eaton, C. and Ekunwe, L. and El Boueiz, A. and Ellinor, P. and Emery, L. and Erzurum, S. and Farber, C. and Fingerlin, T. and Flickinger, M. and Fornage, M. and Franceschini, N. and Frazar, C. and Fu, M. and Fullerton, S. M. and Fulton, L. and Gabriel, S. and Gan, W. and Gao, S. and Gao, Y. and Gass, M. and Gelb, B. and Geng, X. P. and Geraci, M. and Germer, S. and Gerszten, R. and Ghosh, A. and Gibbs, R. and Gignoux, C. and Gladwin, M. and Glahn, D. and Gogarten, S. and Gong, D. W. and Goring, H. and Graw, S. and Grine, D. and Gu, C. C. and Guan, Y. and Guo, X. and Gupta, N. and Haessler, J. and Hall, M. and Harris, D. and Hawley, N. L. and He, J. and Heckbert, S. and Hernandez, R. and Herrington, D. and Hersh, C. and Hidalgo, B. and Hixson, J. and Hobbs, B. and Hokanson, J. and Hong, E. and Hoth, K. and Hsiung, C. A. and Hung, Y. J. and Huston, H. and Hwu, C. M. and Irvin, M. R. and Jackson, R. and Jain, D. and Jaquish, C. and Jhun, M. A. and Johnsen, J. and Johnson, A. and Johnson, C. and Johnston, R. and Jones, K. and Kang, H. M. and Kaplan, R. and Kardia, S. L. R. and Kathiresan, S. and Kelly, S. and Kenny, E. and Kessler, M. and Khan, A. T. and Kim, W. and Kinney, G. and Konkle, B. and Kooperberg, C. L. and Kramer, H. and Lange, C. and Lange, E. and Lange, L. and Laurie, C. C. and Laurie, C. and LeBoff, M. and Lee, J. and Lee, S. S. and Lee, W. J. and LeFaive, J. and Levine, D. and Levy, D. and Lewis, J. and Li, X. and Li, Y. and Lin, H. and Lin, H. and Lin, K. H. and Lin, X. and Liu, S. and Liu, Y. and Liu, Y. and Loos, R. J. F. and Lubitz, S. and Lunetta, K. and Luo, J. and Mahaney, M. C. and Make, B. and Manichaikul, A. W. and Manson, J. and Margolin, L. and Martin, L. W. and Mathai, S. and Mathias, R. A. and May, S. and McArdle, P. and McDonald, M. L. and McFarland, S. and McGarvey, S. T. and McGoldrick, D. and McHugh, C. and Mei, H. and Mestroni, L. and Meyers, D. A. and Mikulla, J. and Min, N. and Minear, M. and Minster, R. L. and Mitchell, B. D. and Moll, M. and Montasser, M. E. and Montgomery, C. and Moscati, A. and Musani, S. and Mwasongwe, S. and Mychaleckyj, J. C. and Nadkarni, G. and Naik, R. and Naseri, T. and Natarajan, P. and Nekhai, S. and Nelson, S. C. and Neltner, B. and Nickerson, D. and North, K. and O{\textquoteright}Connell, J. R. and O{\textquoteright}Connor, T. and Ochs-Balcom, H. and Paik, D. and Palmer, N. D. and Pankow, J. and Papanicolaou, G. and Parsa, A. and Peralta, J. M. and Perez, M. and Perry, J. and Peters, U. and Peyser, P. A. and Phillips, L. S. and Pollin, T. and Post, W. and Becker, J. P. and Boorgula, M. P. and Preuss, M. and Psaty, B. M. and Qasba, P. and Qiao, D. and Qin, Z. and Rafaels, N. and Raffield, L. and Vasan, R. S. and Rao, D. C. and Rasmussen-Torvik, L. and Ratan, A. and Redline, S. and Reed, R. and Regan, E. and Reiner, A. and Reupena, M. S. and Rice, K. M. and Rich, S. S. and Roden, D. and Roselli, C. and Rotter, J. I. and Ruczinski, I. and Russell, P. and Ruuska, S. and Ryan, K. and Sabino, E. C. and Saleheen, D. and Salimi, S. and Salzberg, S. and Sandow, K. and Sankaran, V. G. and Scheller, C. and Schmidt, E. and Schwander, K. and Schwartz, D. and Sciurba, F. and Seidman, C. and Seidman, J. and Sheehan, V. and Sherman, S. L. and Shetty, A. and Shetty, A. and Sheu, W. H. and Shoemaker, M. B. and Silver, B. and Silverman, E. and Smith, J. A. and Smith, J. and Smith, N. and Smith, T. and Smoller, S. and Snively, B. and Snyder, M. and Sofer, T. and Sotoodehnia, N. and Stilp, A. M. and Storm, G. and Streeten, E. and Su, J. L. and Sung, Y. J. and Sylvia, J. and Szpiro, A. and Sztalryd, C. and Taliun, D. and Tang, H. and Taub, M. and Taylor, K. D. and Taylor, M. and Taylor, S. and Telen, M. and Thornton, T. A. and Threlkeld, M. and Tinker, L. and Tirschwell, D. and Tishkoff, S. and Tiwari, H. K. and Tong, C. and Tracy, R. and Tsai, M. Y. and Vaidya, D. and Van Den Berg, D. and VandeHaar, P. and Vrieze, S. and Walker, T. and Wallace, R. and Walts, A. and Wang, F. F. and Wang, H. and Watson, K. and Weeks, D. E. and Weir, B. and Weiss, S. and Weng, L. C. and Wessel, J. and Willer, C. J. and Williams, K. and Williams, L. K. and Wilson, C. and Wilson, J. G. and Wong, Q. and Wu, J. and Xu, H. and Yanek, L. R. and Yang, I. and Yang, R. and Zaghloul, N. and Zekavat, M. and Zhang, Y. and Zhao, S. X. and Zhao, W. and Zhi, D. and Zhou, X. and Zhu, X. and Zody, M. and Zoellner, S. and Abdalla, M. and Abecasis, G. R. and Arnett, D. K. and Aslibekyan, S. and Assimes, T. and Atkinson, E. and Ballantyne, C. M. and Beitelshees, A. and Bielak, L. F. and Bis, J. and Bodea, C. and Boerwinkle, E. and Bowden, D. W. and Brody, J. and Cade, B. and Carlson, J. and Chang, I. S. and Chen, Y. I. and Chun, S. and Chung, R. H. and Conomos, M. P. and Correa, A. and Cupples, L. A. and Damcott, C. and de Vries, P. and Do, R. and Elliott, A. and Fu, M. and Ganna, A. and Gong, D. W. and Graham, S. and Haas, M. and Haring, B. and He, J. and Heckbert, S. and Himes, B. and Hixson, J. and Irvin, M. R. and Jain, D. and Jarvik, G. and Jhun, M. A. and Jiang, J. and Jun, G. and Kalyani, R. and Kardia, S. L. R. and Kathiresan, S. and Khera, A. and Klarin, D. and Kooperberg, C. L. and Kral, B. and Lange, L. and Laurie, C. C. and Laurie, C. and Lemaitre, R. and Li, Z. and Li, X. and Lin, X. and Mahaney, M. C. and Manichaikul, A. W. and Martin, L. W. and Mathias, R. A. and Mathur, R. and McGarvey, S. T. and McHugh, C. and McLenithan, J. and Mikulla, J. and Mitchell, B. D. and Montasser, M. E. and Moran, A. and Morrison, A. C. and Nakao, T. and Natarajan, P. and Nickerson, D. and North, K. and O{\textquoteright}Connell, J. R. and O{\textquoteright}Donnell, C. and Palmer, N. D. and Pampana, A. and Patel, A. and Peloso, G. M. and Perry, J. and Peters, U. and Peyser, P. A. and Pirruccello, J. and Pollin, T. and Preuss, M. and Psaty, B. M. and Rao, D. C. and Redline, S. and Reed, R. and Reiner, A. and Rich, S. S. and Rosenthal, S. and Rotter, J. I. and Schoenberg, J. and Selvaraj, M. S. and Sheu, W. H. and Smith, J. A. and Sofer, T. and Stilp, A. M. and Sunyaev, S. R. and Surakka, I. and Sztalryd, C. and Tang, H. and Taylor, K. D. and Tsai, M. Y. and Uddin, M. M. and Urbut, S. and Verbanck, M. and Von Holle, A. and Wang, H. and Wang, F. F. and Wiggins, K. and Willer, C. J. and Wilson, J. G. and Wolford, B. and Xu, H. and Yanek, L. R. and Zaghloul, N. and Zekavat, M. and Zhang, J.}
}
@article {8484,
	title = {{Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults},
	journal = {Nat Commun},
	volume = {11},
	year = {2020},
	month = {09},
	pages = {4796},
	abstract = {Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprises 22,824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank. We identify genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/{\^I}{\texttwosuperior}-catenin, TGF-{\^I}{\texttwosuperior} and sonic hedgehog pathways. There is enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging.},
	author = {Hofer, E. and Roshchupkin, G. V. and Adams, H. H. H. and Knol, M. J. and Lin, H. and Li, S. and Zare, H. and Ahmad, S. and Armstrong, N. J. and Satizabal, C. L. and Bernard, M. and Bis, J. C. and Gillespie, N. A. and Luciano, M. and Mishra, A. and Scholz, M. and Teumer, A. and Xia, R. and Jian, X. and Mosley, T. H. and Saba, Y. and Pirpamer, L. and Seiler, S. and Becker, J. T. and Carmichael, O. and Rotter, J. I. and Psaty, B. M. and Lopez, O. L. and Amin, N. and van der Lee, S. J. and Yang, Q. and Himali, J. J. and Maillard, P. and Beiser, A. S. and DeCarli, C. and Karama, S. and Lewis, L. and Harris, M. and Bastin, M. E. and Deary, I. J. and Veronica Witte, A. and Beyer, F. and Loeffler, M. and Mather, K. A. and Schofield, P. R. and Thalamuthu, A. and Kwok, J. B. and Wright, M. J. and Ames, D. and Trollor, J. and Jiang, J. and Brodaty, H. and Wen, W. and Vernooij, M. W. and Hofman, A. and Uitterlinden, A. G. and Niessen, W. J. and Wittfeld, K. and B?low, R. and V?lker, U. and Pausova, Z. and Bruce Pike, G. and Maingault, S. and Crivello, F. and Tzourio, C. and Amouyel, P. and Mazoyer, B. and Neale, M. C. and Franz, C. E. and Lyons, M. J. and Panizzon, M. S. and Andreassen, O. A. and Dale, A. M. and Logue, M. and Grasby, K. L. and Jahanshad, N. and Painter, J. N. and Colodro-Conde, L. and Bralten, J. and Hibar, D. P. and Lind, P. A. and Pizzagalli, F. and Stein, J. L. and Thompson, P. M. and Medland, S. E. and Sachdev, P. S. and Kremen, W. S. and Wardlaw, J. M. and Villringer, A. and van Duijn, C. M. and Grabe, H. J. and Longstreth, W. T. and Fornage, M. and Paus, T. and Debette, S. and Arfan Ikram, M. and Schmidt, H. and Schmidt, R. and Seshadri, S. and Grasby, K. L. and Jahanshad, N. and Painter, J. N. and Colodro-Conde, L. and Bralten, J. and Hibar, D. P. and Lind, P. A. and Pizzagalli, F. and Ching, C. R. K. and McMahon, M. A. B. and Shatokhina, N. and Zsembik, L. C. P. and Agartz, I. and Alhusaini, S. and Almeida, M. A. A. and Aln?s, D. and Amlien, I. K. and Andersson, M. and Ard, T. and Armstrong, N. J. and Ashley-Koch, A. and Bernard, M. and Brouwer, R. M. and Buimer, E. E. L. and B?low, R. and B?rger, C. and Cannon, D. M. and Chakravarty, M. and Chen, Q. and Cheung, J. W. and Couvy-Duchesne, B. and Dale, A. M. and Dalvie, S. and de Araujo, T. K. and de Zubicaray, G. I. and de Zwarte, S. M. C. and den Braber, A. and Doan, N. T. and Dohm, K. and Ehrlich, S. and Engelbrecht, H. R. and Erk, S. and Fan, C. C. and Fedko, I. O. and Foley, S. F. and Ford, J. M. and Fukunaga, M. and Garrett, M. E. and Ge, T. and Giddaluru, S. and Goldman, A. L. and Groenewold, N. A. and Grotegerd, D. and Gurholt, T. P. and Gutman, B. A. and Hansell, N. K. and Harris, M. A. and Harrison, M. B. and Haswell, C. C. and Hauser, M. and Herms, S. and Heslenfeld, D. J. and Ho, N. F. and Hoehn, D. and Hoffmann, P. and Holleran, L. and Hoogman, M. and Hottenga, J. J. and Ikeda, M. and Janowitz, D. and Jansen, I. E. and Jia, T. and Jockwitz, C. and Kanai, R. and Karama, S. and Kasperaviciute, D. and Kaufmann, T. and Kelly, S. and Kikuchi, M. and Klein, M. and Knapp, M. and Knodt, A. R. and Kr?mer, B. and Lam, M. and Lancaster, T. M. and Lee, P. H. and Lett, T. A. and Lewis, L. B. and Lopes-Cendes, I. and Luciano, M. and Macciardi, F. and Marquand, A. F. and Mathias, S. R. and Melzer, T. R. and Milaneschi, Y. and Mirza-Schreiber, N. and Moreira, J. C. V. and M?hleisen, T. W. and M?ller-Myhsok, B. and Najt, P. and Nakahara, S. and Nho, K. and Olde Loohuis, L. M. and Orfanos, D. P. and Pearson, J. F. and Pitcher, T. L. and P?tz, B. and Ragothaman, A. and Rashid, F. M. and Redlich, R. and Reinbold, C. S. and Repple, J. and Richard, G. and Riedel, B. C. and Risacher, S. L. and Rocha, C. S. and Mota, N. R. and Salminen, L. and Saremi, A. and Saykin, A. J. and Schlag, F. and Schmaal, L. and Schofield, P. R. and Secolin, R. and Shapland, C. Y. and Shen, L. and Shin, J. and Shumskaya, E. and S?nderby, I. E. and Sprooten, E. and Strike, L. T. and Tansey, K. E. and Teumer, A. and Thalamuthu, A. and Thomopoulos, S. I. and Tordesillas-Guti?rrez, D. and Turner, J. A. and Uhlmann, A. and Vallerga, C. L. and van der Meer, D. and van Donkelaar, M. M. J. and van Eijk, L. and van Erp, T. G. M. and van Haren, N. E. M. and van Rooij, D. and van Tol, M. J. and Veldink, J. H. and Verhoef, E. and Walton, E. and Wang, M. and Wang, Y. and Wardlaw, J. M. and Wen, W. and Westlye, L. T. and Whelan, C. D. and Witt, S. H. and Wittfeld, K. and Wolf, C. and Wolfers, T. and Yasuda, C. L. and Zaremba, D. and Zhang, Z. and Zhu, A. H. and Zwiers, M. P. and Artiges, E. and Assareh, A. A. and Ayesa-Arriola, R. and Belger, A. and Brandt, C. L. and Brown, G. G. and Cichon, S. and Curran, J. E. and Davies, G. E. and Degenhardt, F. and Dietsche, B. and Djurovic, S. and Doherty, C. P. and Espiritu, R. and Garijo, D. and Gil, Y. and Gowland, P. A. and Green, R. C. and H?usler, A. N. and Heindel, W. and Ho, B. C. and Hoffmann, W. U. and Holsboer, F. and Homuth, G. and Hosten, N. and Jack, C. R. and Jang, M. and Jansen, A. and Kolsk?r, K. and Koops, S. and Krug, A. and Lim, K. O. and Luykx, J. J. and Mathalon, D. H. and Mather, K. A. and Mattay, V. S. and Matthews, S. and Son, J. M. V. and McEwen, S. C. and Melle, I. and Morris, D. W. and Mueller, B. A. and Nauck, M. and Nordvik, J. E. and N?then, M. M. and O{\textquoteright}Leary, D. S. and Opel, N. and Martinot, M. -P. and Pike, G. B. and Preda, A. and Quinlan, E. B. and Ratnakar, V. and Reppermund, S. and Steen, V. M. and Torres, F. R. and Veltman, D. J. and Voyvodic, J. T. and Whelan, R. and White, T. and Yamamori, H. and Alvim, M. K. M. and Ames, D. and Anderson, T. J. and Andreassen, O. A. and Arias-Vasquez, A. and Bastin, M. E. and Baune, B. T. and Blangero, J. and Boomsma, D. I. and Brodaty, H. and Brunner, H. G. and Buckner, R. L. and Buitelaar, J. K. and Bustillo, J. R. and Cahn, W. and Calhoun, V. and Caseras, X. and Caspers, S. and Cavalleri, G. L. and Cendes, F. and Corvin, A. and Crespo-Facorro, B. and Dalrymple-Alford, J. C. and Dannlowski, U. and de Geus, E. J. C. and Deary, I. J. and Delanty, N. and Depondt, C. and Desrivi?res, S. and Donohoe, G. and Espeseth, T. and Fern?ndez, G. and Fisher, S. E. and Flor, H. and Forstner, A. J. and Francks, C. and Franke, B. and Glahn, D. C. and Gollub, R. L. and Grabe, H. J. and Gruber, O. and H?berg, A. K. and Hariri, A. R. and Hartman, C. A. and Hashimoto, R. and Heinz, A. and Hillegers, M. H. J. and Hoekstra, P. J. and Holmes, A. J. and Hong, L. E. and Hopkins, W. D. and Hulshoff Pol, H. E. and Jernigan, T. L. and J?nsson, E. G. and Kahn, R. S. and Kennedy, M. A. and Kircher, T. T. J. and Kochunov, P. and Kwok, J. B. J. and Hellard, S. L. and Martin, N. G. and Martinot, J. - and McDonald, C. and McMahon, K. L. and Meyer-Lindenberg, A. and Morey, R. A. and Nyberg, L. and Oosterlaan, J. and Ophoff, R. A. and Paus, T. and Pausova, Z. and Penninx, B. W. J. H. and Polderman, T. J. C. and Posthuma, D. and Rietschel, M. and Roffman, J. L. and Rowland, L. M. and Sachdev, P. S. and S?mann, P. G. and Schumann, G. and Sim, K. and Sisodiya, S. M. and Smoller, J. W. and Sommer, I. E. and Pourcain, B. S. and Stein, D. J. and Toga, A. W. and Trollor, J. N. and Van der Wee, N. J. A. and van {\textquoteright}t Ent, D. and V?lzke, H. and Walter, H. and Weber, B. and Weinberger, D. R. and Wright, M. J. and Zhou, J. and Stein, J. L. and Thompson, P. M. and Medland, S. E.}
}
@article {8454,
	title = {{Genome-Wide Association Study Meta-Analysis of Stroke in 22 000 Individuals of African Descent Identifies Novel Associations With Stroke},
	journal = {Stroke},
	volume = {51},
	year = {2020},
	month = {Aug},
	pages = {2454{\textendash}2463},
	abstract = {Stroke is a complex disease with multiple genetic and environmental risk factors. Blacks endure a nearly 2-fold greater risk of stroke and are 2{\~A}{\textemdash} to 3{\~A}{\textemdash} more likely to die from stroke than European Americans.\ The COMPASS (Consortium of Minority Population Genome-Wide Association Studies of Stroke) has conducted a genome-wide association meta-analysis of stroke in >22 000 individuals of African ancestry (3734 cases, 18 317 controls) from 13 cohorts.\ In meta-analyses, we identified one single nucleotide polymorphism (rs55931441) near the HNF1A gene that reached genome-wide significance (P=4.62{\~A}{\textemdash}10-8) and an additional 29 variants with suggestive evidence of association (P<1{\~A}{\textemdash}10-6), representing 24 unique loci. For validation, a look-up analysis for a 100 kb region flanking the COMPASS single nucleotide polymorphism was performed in SiGN (Stroke Genetics Network) Europeans, SiGN Hispanics, and METASTROKE (Europeans). Using a stringent Bonferroni correction P value of 2.08{\~A}{\textemdash}10-3 (0.05/24 unique loci), we were able to validate associations at the HNF1A locus in both SiGN (P=8.18{\~A}{\textemdash}10-4) and METASTROKE (P=1.72{\~A}{\textemdash}10-3) European populations. Overall, 16 of 24 loci showed evidence for validation across multiple populations. Previous studies have reported associations between variants in the HNF1A gene and lipids, C-reactive protein, and risk of coronary artery disease and stroke. Suggestive associations with variants in the SFXN4 and TMEM108 genes represent potential novel ischemic stroke loci.\ These findings represent the most thorough investigation of genetic determinants of stroke in individuals of African descent, to date.},
	author = {Keene, K. L. and Hyacinth, H. I. and Bis, J. C. and Kittner, S. J. and Mitchell, B. D. and Cheng, Y. C. and Pare, G. and Chong, M. and O{\textquoteright}Donnell, M. and Meschia, J. F. and Chen, W. M. and Sale, M. M. and Rich, S. S. and Nalls, M. A. and Zonderman, A. B. and Evans, M. K. and Wilson, J. G. and Correa, A. and Markus, H. S. and Traylor, M. and Lewis, C. M. and Carty, C. L. and Reiner, A. and Haessler, J. and Langefeld, C. D. and Gottesman, R. and Mosley, T. H. and Woo, D. and Yaffe, K. and Liu, Y. and Longstreth, W. T. and Psaty, B. M. and Kooperberg, C. and Lange, L. A. and Sacco, R. and Rundek, T. and Lee, J. M. and Cruchaga, C. and Furie, K. L. and Arnett, D. K. and Benavente, O. R. and Grewal, R. P. and Peddareddygari, L. R. and Dichgans, M. and Malik, R. and Worrall, B. B. and Fornage, M.}
}
@article {8783,
	title = {{Epigenome-wide association meta-analysis of DNA methylation with coffee and tea consumption},
	journal = {Nat Commun},
	volume = {12},
	year = {2021},
	month = {05},
	pages = {2830},
	abstract = {10.1038/s41467-021-22752-6Coffee and tea are extensively consumed beverages worldwide which have received considerable attention regarding health. Intake of these beverages is consistently linked to, among others, reduced risk of diabetes and liver diseases; however, the mechanisms of action remain elusive. Epigenetics is suggested as a mechanism mediating the effects of dietary and lifestyle factors on disease onset. Here we report the results from epigenome-wide association studies (EWAS) on coffee and tea consumption in 15,789 participants of European and African-American ancestries from 15 cohorts. EWAS meta-analysis of coffee consumption reveals 11 CpGs surpassing the epigenome-wide significance threshold (P-value <1.1{\texttimes}10-7), which annotated to the AHRR, F2RL3, FLJ43663, HDAC4, GFI1 and PHGDH genes. Among them, cg14476101 is significantly associated with expression of the PHGDH and risk of fatty liver disease. Knockdown of PHGDH expression in liver cells shows a correlation with expression levels of genes associated with circulating lipids, suggesting a role of PHGDH in hepatic-lipid metabolism. EWAS meta-analysis on tea consumption reveals no significant association, only two CpGs annotated to CACNA1A and PRDM16 genes show suggestive association (P-value <5.0{\texttimes}10-6). These findings indicate that coffee-associated changes in DNA methylation levels may explain the mechanism of action of coffee consumption in conferring risk of diseases.},
	author = {Karabegovi{\'c}, I. and Portilla-Fernandez, E. and Li, Y. and Ma, J. and Maas, S. C. E. and Sun, D. and Hu, E. A. and K{\"u}hnel, B. and Zhang, Y. and Ambatipudi, S. and Fiorito, G. and Huang, J. and Castillo-Fernandez, J. E. and Wiggins, K. L. and de Klein, N. and Grioni, S. and Swenson, B. R. and Polidoro, S. and Treur, J. L. and Cuenin, C. and Tsai, P. C. and Costeira, R. and Chajes, V. and Braun, K. and Verweij, N. and Kretschmer, A. and Franke, L. and van Meurs, J. B. J. and Uitterlinden, A. G. and de Knegt, R. J. and Ikram, M. A. and Dehghan, A. and Peters, A. and Sch{\"o}ttker, B. and Gharib, S. A. and Sotoodehnia, N. and Bell, J. T. and Elliott, P. and Vineis, P. and Relton, C. and Herceg, Z. and Brenner, H. and Waldenberger, M. and Rebholz, C. M. and Voortman, T. and Pan, Q. and Fornage, M. and Levy, D. and Kayser, M. and Ghanbari, M.}
}
@article {8781,
	title = {{A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids},
	journal = {Nat Commun},
	volume = {12},
	year = {2021},
	month = {06},
	pages = {3987},
	abstract = {10.1038/s41467-021-23899-yHere we examine the association between DNA methylation in circulating leukocytes and blood lipids in a multi-ethnic sample of 16,265 subjects. We identify 148, 35, and 4 novel associations among Europeans, African Americans, and Hispanics, respectively, and an additional 186 novel associations through a trans-ethnic meta-analysis. We observe a high concordance in the direction of effects across racial/ethnic groups, a high correlation of effect sizes between high-density lipoprotein and triglycerides, a modest overlap of associations with epigenome-wide association studies of other cardio-metabolic traits, and a largely non-overlap with lipid loci identified to date through genome-wide association studies. Thirty CpGs reached significance in at least 2 racial/ethnic groups including 7 that showed association with the expression of an annotated gene. CpGs annotated to CPT1A showed evidence of being influenced by triglycerides levels. DNA methylation levels of circulating leukocytes show robust and consistent association with blood lipid levels across multiple racial/ethnic groups.},
	author = {Jhun, M. A. and Mendelson, M. and Wilson, R. and Gondalia, R. and Joehanes, R. and Salfati, E. and Zhao, X. and Braun, K. V. E. and Do, A. N. and Hedman, {\r A}. K. and Zhang, T. and Carnero-Montoro, E. and Shen, J. and Bartz, T. M. and Brody, J. A. and Montasser, M. E. and O{\textquoteright}Connell, J. R. and Yao, C. and Xia, R. and Boerwinkle, E. and Grove, M. and Guan, W. and Liliane, P. and Singmann, P. and M{\"u}ller-Nurasyid, M. and Meitinger, T. and Gieger, C. and Peters, A. and Zhao, W. and Ware, E. B. and Smith, J. A. and Dhana, K. and van Meurs, J. and Uitterlinden, A. and Ikram, M. A. and Ghanbari, M. and Zhi, D. and Gustafsson, S. and Lind, L. and Li, S. and Sun, D. and Spector, T. D. and Chen, Y. I. and Damcott, C. and Shuldiner, A. R. and Absher, D. M. and Horvath, S. and Tsao, P. S. and Kardia, S. and Psaty, B. M. and Sotoodehnia, N. and Bell, J. T. and Ingelsson, E. and Chen, W. and Dehghan, A. and Arnett, D. K. and Waldenberger, M. and Hou, L. and Whitsel, E. A. and Baccarelli, A. and Levy, D. and Fornage, M. and Irvin, M. R. and Assimes, T. L.}
}
@article {8992,
	title = {{The power of genetic diversity in genome-wide association studies of lipids},
	journal = {Nature},
	volume = {600},
	year = {2021},
	month = {Dec},
	pages = {675{\textendash}679},
	abstract = {application of polygenic scores in clinical practice.},
	author = {Graham, S. E. and Clarke, S. L. and Wu, K. H. and Kanoni, S. and Zajac, G. J. M. and Ramdas, S. and Surakka, I. and Ntalla, I. and Vedantam, S. and Winkler, T. W. and Locke, A. E. and Marouli, E. and Hwang, M. Y. and Han, S. and Narita, A. and Choudhury, A. and Bentley, A. R. and Ekoru, K. and Verma, A. and Trivedi, B. and Martin, H. C. and Hunt, K. A. and Hui, Q. and Klarin, D. and Zhu, X. and Thorleifsson, G. and Helgadottir, A. and Gudbjartsson, D. F. and Holm, H. and Olafsson, I. and Akiyama, M. and Sakaue, S. and Terao, C. and Kanai, M. and Zhou, W. and Brumpton, B. M. and Rasheed, H. and Ruotsalainen, S. E. and Havulinna, A. S. and Veturi, Y. and Feng, Q. and Rosenthal, E. A. and Lingren, T. and Pacheco, J. A. and Pendergrass, S. A. and Haessler, J. and Giulianini, F. and Bradford, Y. and Miller, J. E. and Campbell, A. and Lin, K. and Millwood, I. Y. and Hindy, G. and Rasheed, A. and Faul, J. D. and Zhao, W. and Weir, D. R. and Turman, C. and Huang, H. and Graff, M. and Mahajan, A. and Brown, M. R. and Zhang, W. and Yu, K. and Schmidt, E. M. and Pandit, A. and Gustafsson, S. and Yin, X. and Luan, J. and Zhao, J. H. and Matsuda, F. and Jang, H. M. and Yoon, K. and Medina-Gomez, C. and Pitsillides, A. and Hottenga, J. J. and Willemsen, G. and Wood, A. R. and Ji, Y. and Gao, Z. and Haworth, S. and Mitchell, R. E. and Chai, J. F. and Aadahl, M. and Yao, J. and Manichaikul, A. and Warren, H. R. and Ramirez, J. and Bork-Jensen, J. and K{\r a}rhus, L. L. and Goel, A. and Sabater-Lleal, M. and Noordam, R. and Sidore, C. and Fiorillo, E. and McDaid, A. F. and Marques-Vidal, P. and Wielscher, M. and Trompet, S. and Sattar, N. and M{\o}llehave, L. T. and Thuesen, B. H. and Munz, M. and Zeng, L. and Huang, J. and Yang, B. and Poveda, A. and Kurbasic, A. and Lamina, C. and Forer, L. and Scholz, M. and Galesloot, T. E. and Bradfield, J. P. and Daw, E. W. and Zmuda, J. M. and Mitchell, J. S. and Fuchsberger, C. and Christensen, H. and Brody, J. A. and Feitosa, M. F. and Wojczynski, M. K. and Preuss, M. and Mangino, M. and Christofidou, P. and Verweij, N. and Benjamins, J. W. and Engmann, J. and Kember, R. L. and Slieker, R. C. and Lo, K. S. and Zilhao, N. R. and Le, P. and Kleber, M. E. and Delgado, G. E. and Huo, S. and Ikeda, D. D. and Iha, H. and Yang, J. and Liu, J. and Leonard, H. L. and Marten, J. and Schmidt, B. and Arendt, M. and Smyth, L. J. and Ca{\~n}adas-Garre, M. and Wang, C. and Nakatochi, M. and Wong, A. and Hutri-K{\"a}h{\"o}nen, N. and Sim, X. and Xia, R. and Huerta-Chagoya, A. and Fernandez-Lopez, J. C. and Lyssenko, V. and Ahmed, M. and Jackson, A. U. and Irvin, M. R. and Oldmeadow, C. and Kim, H. N. and Ryu, S. and Timmers, P. R. H. J. and Arbeeva, L. and Dorajoo, R. and Lange, L. A. and Chai, X. and Prasad, G. and Lor{\'e}s-Motta, L. and Pauper, M. and Long, J. and Li, X. and Theusch, E. and Takeuchi, F. and Spracklen, C. N. and Loukola, A. and Bollepalli, S. and Warner, S. C. and Wang, Y. X. and Wei, W. B. and Nutile, T. and Ruggiero, D. and Sung, Y. J. and Hung, Y. J. and Chen, S. and Liu, F. and Yang, J. and Kentistou, K. A. and Gorski, M. and Brumat, M. and Meidtner, K. and Bielak, L. F. and Smith, J. A. and Hebbar, P. and Farmaki, A. E. and Hofer, E. and Lin, M. and Xue, C. and Zhang, J. and Concas, M. P. and Vaccargiu, S. and van der Most, P. J. and Pitk{\"a}nen, N. and Cade, B. E. and Lee, J. and van der Laan, S. W. and Chitrala, K. N. and Weiss, S. and Zimmermann, M. E. and Lee, J. Y. and Choi, H. S. and Nethander, M. and Freitag-Wolf, S. and Southam, L. and Rayner, N. W. and Wang, C. A. and Lin, S. Y. and Wang, J. S. and Couture, C. and Lyytik{\"a}inen, L. P. and Nikus, K. and Cuellar-Partida, G. and Vestergaard, H. and Hildalgo, B. and Giannakopoulou, O. and Cai, Q. and Obura, M. O. and van Setten, J. and Li, X. and Schwander, K. and Terzikhan, N. and Shin, J. H. and Jackson, R. D. and Reiner, A. P. and Martin, L. W. and Chen, Z. and Li, L. and Highland, H. M. and Young, K. L. and Kawaguchi, T. and Thiery, J. and Bis, J. C. and Nadkarni, G. N. and Launer, L. J. and Li, H. and Nalls, M. A. and Raitakari, O. T. and Ichihara, S. and Wild, S. H. and Nelson, C. P. and Campbell, H. and J{\"a}ger, S. and Nabika, T. and Al-Mulla, F. and Niinikoski, H. and Braund, P. S. and Kolcic, I. and Kovacs, P. and Giardoglou, T. and Katsuya, T. and Bhatti, K. F. and de Kleijn, D. and de Borst, G. J. and Kim, E. K. and Adams, H. H. H. and Ikram, M. A. and Zhu, X. and Asselbergs, F. W. and Kraaijeveld, A. O. and Beulens, J. W. J. and Shu, X. O. and Rallidis, L. S. and Pedersen, O. and Hansen, T. and Mitchell, P. and Hewitt, A. W. and K{\"a}h{\"o}nen, M. and P{\'e}russe, L. and Bouchard, C. and Tonjes, A. and Chen, Y. I. and Pennell, C. E. and Mori, T. A. and Lieb, W. and Franke, A. and Ohlsson, C. and Mellstr{\"o}m, D. and Cho, Y. S. and Lee, H. and Yuan, J. M. and Koh, W. P. and Rhee, S. Y. and Woo, J. T. and Heid, I. M. and Stark, K. J. and V{\"o}lzke, H. and Homuth, G. and Evans, M. K. and Zonderman, A. B. and Polasek, O. and Pasterkamp, G. and Hoefer, I. E. and Redline, S. and Pahkala, K. and Oldehinkel, A. J. and Snieder, H. and Biino, G. and Schmidt, R. and Schmidt, H. and Chen, Y. E. and Bandinelli, S. and Dedoussis, G. and Thanaraj, T. A. and Kardia, S. L. R. and Kato, N. and Schulze, M. B. and Girotto, G. and Jung, B. and B{\"o}ger, C. A. and Joshi, P. K. and Bennett, D. A. and De Jager, P. L. and Lu, X. and Mamakou, V. and Brown, M. and Caulfield, M. J. and Munroe, P. B. and Guo, X. and Ciullo, M. and Jonas, J. B. and Samani, N. J. and Kaprio, J. and Pajukanta, P. and Adair, L. S. and Bechayda, S. A. and de Silva, H. J. and Wickremasinghe, A. R. and Krauss, R. M. and Wu, J. Y. and Zheng, W. and den Hollander, A. I. and Bharadwaj, D. and Correa, A. and Wilson, J. G. and Lind, L. and Heng, C. K. and Nelson, A. E. and Golightly, Y. M. and Wilson, J. F. and Penninx, B. and Kim, H. L. and Attia, J. and Scott, R. J. and Rao, D. C. and Arnett, D. K. and Walker, M. and Koistinen, H. A. and Chandak, G. R. and Yajnik, C. S. and Mercader, J. M. and Tusi{\'e}-Luna, T. and Aguilar-Salinas, C. A. and Villalpando, C. G. and Orozco, L. and Fornage, M. and Tai, E. S. and van Dam, R. M. and Lehtim{\"a}ki, T. and Chaturvedi, N. and Yokota, M. and Liu, J. and Reilly, D. F. and McKnight, A. J. and Kee, F. and J{\"o}ckel, K. H. and McCarthy, M. I. and Palmer, C. N. A. and Vitart, V. and Hayward, C. and Simonsick, E. and van Duijn, C. M. and Lu, F. and Qu, J. and Hishigaki, H. and Lin, X. and M{\"a}rz, W. and Parra, E. J. and Cruz, M. and Gudnason, V. and Tardif, J. C. and Lettre, G. and {\textquoteright}t Hart, L. M. and Elders, P. J. M. and Damrauer, S. M. and Kumari, M. and Kivimaki, M. and van der Harst, P. and Spector, T. D. and Loos, R. J. F. and Province, M. A. and Psaty, B. M. and Brandslund, I. and Pramstaller, P. P. and Christensen, K. and Ripatti, S. and Wid{\'e}n, E. and Hakonarson, H. and Grant, S. F. A. and Kiemeney, L. A. L. M. and de Graaf, J. and Loeffler, M. and Kronenberg, F. and Gu, D. and Erdmann, J. and Schunkert, H. and Franks, P. W. and Linneberg, A. and Jukema, J. W. and Khera, A. V. and M{\"a}nnikk{\"o}, M. and Jarvelin, M. R. and Kutalik, Z. and Cucca, F. and Mook-Kanamori, D. O. and van Dijk, K. W. and Watkins, H. and Strachan, D. P. and Grarup, N. and Sever, P. and Poulter, N. and Rotter, J. I. and Dantoft, T. M. and Karpe, F. and Neville, M. J. and Timpson, N. J. and Cheng, C. Y. and Wong, T. Y. and Khor, C. C. and Sabanayagam, C. and Peters, A. and Gieger, C. and Hattersley, A. T. and Pedersen, N. L. and Magnusson, P. K. E. and Boomsma, D. I. and de Geus, E. J. C. and Cupples, L. A. and van Meurs, J. B. J. and Ghanbari, M. and Gordon-Larsen, P. and Huang, W. and Kim, Y. J. and Tabara, Y. and Wareham, N. J. and Langenberg, C. and Zeggini, E. and Kuusisto, J. and Laakso, M. and Ingelsson, E. and Abecasis, G. and Chambers, J. C. and Kooner, J. S. and de Vries, P. S. and Morrison, A. C. and North, K. E. and Daviglus, M. and Kraft, P. and Martin, N. G. and Whitfield, J. B. and Abbas, S. and Saleheen, D. and Walters, R. G. and Holmes, M. V. and Black, C. and Smith, B. H. and Justice, A. E. and Baras, A. and Buring, J. E. and Ridker, P. M. and Chasman, D. I. and Kooperberg, C. and Wei, W. Q. and Jarvik, G. P. and Namjou, B. and Hayes, M. G. and Ritchie, M. D. and Jousilahti, P. and Salomaa, V. and Hveem, K. and {\r A}svold, B. O. and Kubo, M. and Kamatani, Y. and Okada, Y. and Murakami, Y. and Thorsteinsdottir, U. and Stefansson, K. and Ho, Y. L. and Lynch, J. A. and Rader, D. J. and Tsao, P. S. and Chang, K. M. and Cho, K. and O{\textquoteright}Donnell, C. J. and Gaziano, J. M. and Wilson, P. and Rotimi, C. N. and Hazelhurst, S. and Ramsay, M. and Trembath, R. C. and van Heel, D. A. and Tamiya, G. and Yamamoto, M. and Kim, B. J. and Mohlke, K. L. and Frayling, T. M. and Hirschhorn, J. N. and Kathiresan, S. and Boehnke, M. and Natarajan, P. and Peloso, G. M. and Brown, C. D. and Morris, A. P. and Assimes, T. L. and Deloukas, P. and Sun, Y. V. and Willer, C. J.}
}
@article {9181,
	title = {{Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease},
	journal = {Nat Commun},
	volume = {13},
	year = {2022},
	month = {Sep},
	pages = {5350},
	abstract = {Age-related changes to the genome-wide DNA methylation (DNAm) pattern observed in blood are well-documented. Clonal hematopoiesis of indeterminate potential (CHIP), characterized by the age-related acquisition and expansion of leukemogenic mutations in hematopoietic stem cells (HSCs), is associated with blood cancer and coronary artery disease (CAD). Epigenetic regulators DNMT3A and TET2 are the two most frequently mutated CHIP genes. Here, we present results from an epigenome-wide association study for CHIP in 582 Cardiovascular Health Study (CHS) participants, with replication in 2655 Atherosclerosis Risk in Communities (ARIC) Study participants. We show that DNMT3A and TET2 CHIP have distinct and directionally opposing genome-wide DNAm association patterns consistent with their regulatory roles, albeit both promoting self-renewal of HSCs. Mendelian randomization analyses indicate that a subset of DNAm alterations associated with these two leading CHIP genes may promote the risk for CAD.},
	author = {Uddin, M. D. M. and Nguyen, N. Q. H. and Yu, B. and Brody, J. A. and Pampana, A. and Nakao, T. and Fornage, M. and Bressler, J. and Sotoodehnia, N. and Weinstock, J. S. and Honigberg, M. C. and Nachun, D. and Bhattacharya, R. and Griffin, G. K. and Chander, V. and Gibbs, R. A. and Rotter, J. I. and Liu, C. and Baccarelli, A. A. and Chasman, D. I. and Whitsel, E. A. and Kiel, D. P. and Murabito, J. M. and Boerwinkle, E. and Ebert, B. L. and Jaiswal, S. and Floyd, J. S. and Bick, A. G. and Ballantyne, C. M. and Psaty, B. M. and Natarajan, P. and Conneely, K. N.}
}
@article {9106,
	title = {{Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate},
	journal = {Brain},
	volume = {145},
	year = {2022},
	month = {Jun},
	pages = {1992{\textendash}2007},
	abstract = {Cerebral small vessel disease is a leading cause of stroke and a major contributor to cognitive decline and dementia, but our understanding of specific genes underlying the cause of sporadic cerebral small vessel disease is limited. We report a genome-wide association study and a whole-exome association study on a composite extreme phenotype of cerebral small vessel disease derived from its most common MRI features: white matter hyperintensities and lacunes. Seventeen population-based cohorts of older persons with MRI measurements and genome-wide genotyping (n = 41 326), whole-exome sequencing (n = 15 965), or exome chip (n = 5249) data contributed 13 776 and 7079 extreme small vessel disease samples for the genome-wide association study and whole-exome association study, respectively. The genome-wide association study identified significant association of common variants in 11 loci with extreme small vessel disease, of which the chr12q24.11 locus was not previously reported to be associated with any MRI marker of cerebral small vessel disease. The whole-exome association study identified significant associations of extreme small vessel disease with common variants in the 5{\textquoteright} UTR region of EFEMP1 (chr2p16.1) and one probably damaging common missense variant in TRIM47 (chr17q25.1). Mendelian randomization supports the causal association of extensive small vessel disease severity with increased risk of stroke and Alzheimer{\textquoteright}s disease. Combined evidence from summary-based Mendelian randomization studies and profiling of human loss-of-function allele carriers showed an inverse relation between TRIM47 expression in the brain and blood vessels and extensive small vessel disease severity. We observed significant enrichment of Trim47 in isolated brain vessel preparations compared to total brain fraction in mice, in line with the literature showing Trim47 enrichment in brain endothelial cells at single cell level. Functional evaluation of TRIM47 by small interfering RNAs-mediated knockdown in human brain endothelial cells showed increased endothelial permeability, an important hallmark of cerebral small vessel disease pathology. Overall, our comprehensive gene-mapping study and preliminary functional evaluation suggests a putative role of TRIM47 in the pathophysiology of cerebral small vessel disease, making it an important candidate for extensive in vivo explorations and future translational work.},
	author = {Mishra, A. and Dupla{\`a}, C. and Vojinovic, D. and Suzuki, H. and Sargurupremraj, M. and Zilhao, N. R. and Li, S. and Bartz, T. M. and Jian, X. and Zhao, W. and Hofer, E. and Wittfeld, K. and Harris, S. E. and van der Auwera-Palitschka, S. and Luciano, M. and Bis, J. C. and Adams, H. H. H. and Satizabal, C. L. and Gottesman, R. F. and Gampawar, P. G. and B{\"u}low, R. and Weiss, S. and Yu, M. and Bastin, M. E. and Lopez, O. L. and Vernooij, M. W. and Beiser, A. S. and V{\"o}lker, U. and Kacprowski, T. and Soumare, A. and Smith, J. A. and Knopman, D. S. and Morris, Z. and Zhu, Y. and Rotter, J. I. and Dufouil, C. and Vald{\'e}s Hern{\'a}ndez, M. and Mu{\~n}oz Maniega, S. and Lathrop, M. and Boerwinkle, E. and Schmidt, R. and Ihara, M. and Mazoyer, B. and Yang, Q. and Joutel, A. and Tournier-Lasserve, E. and Launer, L. J. and Deary, I. J. and Mosley, T. H. and Amouyel, P. and DeCarli, C. S. and Psaty, B. M. and Tzourio, C. and Kardia, S. L. R. and Grabe, H. J. and Teumer, A. and van Duijn, C. M. and Schmidt, H. and Wardlaw, J. M. and Ikram, M. A. and Fornage, M. and Gudnason, V. and Seshadri, S. and Matthews, P. M. and Longstreth, W. T. and Couffinhal, T. and Debette, S.}
}
@article {8999,
	title = {{Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation},
	journal = {Hum Genet},
	volume = {141},
	year = {2022},
	month = {Jan},
	pages = {127{\textendash}146},
	abstract = {).},
	author = {Longchamps, R. J. and Yang, S. Y. and Castellani, C. A. and Shi, W. and Lane, J. and Grove, M. L. and Bartz, T. M. and Sarnowski, C. and Liu, C. and Burrows, K. and Guyatt, A. L. and Gaunt, T. R. and Kacprowski, T. and Yang, J. and De Jager, P. L. and Yu, L. and Bergman, A. and Xia, R. and Fornage, M. and Feitosa, M. F. and Wojczynski, M. K. and Kraja, A. T. and Province, M. A. and Amin, N. and Rivadeneira, F. and Tiemeier, H. and Uitterlinden, A. G. and Broer, L. and van Meurs, J. B. J. and van Duijn, C. M. and Raffield, L. M. and Lange, L. and Rich, S. S. and Lemaitre, R. N. and Goodarzi, M. O. and Sitlani, C. M. and Mak, A. C. Y. and Bennett, D. A. and Rodriguez, S. and Murabito, J. M. and Lunetta, K. L. and Sotoodehnia, N. and Atzmon, G. and Ye, K. and Barzilai, N. and Brody, J. A. and Psaty, B. M. and Taylor, K. D. and Rotter, J. I. and Boerwinkle, E. and Pankratz, N. and Arking, D. E.}
}
@article {9250,
	title = {{Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis},
	journal = {Genome Biol},
	volume = {23},
	year = {2022},
	month = {Dec},
	pages = {268},
	abstract = {Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.\ 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5\% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.\ Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.},
	author = {Kanoni, S. and Graham, S. E. and Wang, Y. and Surakka, I. and Ramdas, S. and Zhu, X. and Clarke, S. L. and Bhatti, K. F. and Vedantam, S. and Winkler, T. W. and Locke, A. E. and Marouli, E. and Zajac, G. J. M. and Wu, K. H. and Ntalla, I. and Hui, Q. and Klarin, D. and Hilliard, A. T. and Wang, Z. and Xue, C. and Thorleifsson, G. and Helgadottir, A. and Gudbjartsson, D. F. and Holm, H. and Olafsson, I. and Hwang, M. Y. and Han, S. and Akiyama, M. and Sakaue, S. and Terao, C. and Kanai, M. and Zhou, W. and Brumpton, B. M. and Rasheed, H. and Havulinna, A. S. and Veturi, Y. and Pacheco, J. A. and Rosenthal, E. A. and Lingren, T. and Feng, Q. and Kullo, I. J. and Narita, A. and Takayama, J. and Martin, H. C. and Hunt, K. A. and Trivedi, B. and Haessler, J. and Giulianini, F. and Bradford, Y. and Miller, J. E. and Campbell, A. and Lin, K. and Millwood, I. Y. and Rasheed, A. and Hindy, G. and Faul, J. D. and Zhao, W. and Weir, D. R. and Turman, C. and Huang, H. and Graff, M. and Choudhury, A. and Sengupta, D. and Mahajan, A. and Brown, M. R. and Zhang, W. and Yu, K. and Schmidt, E. M. and Pandit, A. and Gustafsson, S. and Yin, X. and Luan, J. and Zhao, J. H. and Matsuda, F. and Jang, H. M. and Yoon, K. and Medina-Gomez, C. and Pitsillides, A. and Hottenga, J. J. and Wood, A. R. and Ji, Y. and Gao, Z. and Haworth, S. and Yousri, N. A. and Mitchell, R. E. and Chai, J. F. and Aadahl, M. and Bjerregaard, A. A. and Yao, J. and Manichaikul, A. and Hwu, C. M. and Hung, Y. J. and Warren, H. R. and Ramirez, J. and Bork-Jensen, J. and rhus, L. L. and Goel, A. and Sabater-Lleal, M. and Noordam, R. and Mauro, P. and Matteo, F. and McDaid, A. F. and Marques-Vidal, P. and Wielscher, M. and Trompet, S. and Sattar, N. and llehave, L. T. and Munz, M. and Zeng, L. and Huang, J. and Yang, B. and Poveda, A. and Kurbasic, A. and Lamina, C. and Forer, L. and Scholz, M. and Galesloot, T. E. and Bradfield, J. P. and Ruotsalainen, S. 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A. and Prasad, G. and s-Motta, L. and Pauper, M. and Long, J. and Li, X. and Theusch, E. and Takeuchi, F. and Spracklen, C. N. and Loukola, A. and Bollepalli, S. and Warner, S. C. and Wang, Y. X. and Wei, W. B. and Nutile, T. and Ruggiero, D. and Sung, Y. J. and Chen, S. and Liu, F. and Yang, J. and Kentistou, K. A. and Banas, B. and Nardone, G. G. and Meidtner, K. and Bielak, L. F. and Smith, J. A. and Hebbar, P. and Farmaki, A. E. and Hofer, E. and Lin, M. and Concas, M. P. and Vaccargiu, S. and van der Most, P. J. and nen, N. and Cade, B. E. and van der Laan, S. W. and Chitrala, K. N. and Weiss, S. and Bentley, A. R. and Doumatey, A. P. and Adeyemo, A. A. and Lee, J. Y. and Petersen, E. R. B. and Nielsen, A. A. and Choi, H. S. and Nethander, M. and Freitag-Wolf, S. and Southam, L. and Rayner, N. W. and Wang, C. A. and Lin, S. Y. and Wang, J. S. and Couture, C. and inen, L. 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}
@article {9166,
	title = {{A population-based meta-analysis of circulating GFAP for cognition and dementia risk},
	journal = {Ann Clin Transl Neurol},
	volume = {9},
	year = {2022},
	month = {Oct},
	pages = {1574{\textendash}1585},
	abstract = {Expression of glial fibrillary acidic protein (GFAP), a marker of reactive astrocytosis, colocalizes with neuropathology in the brain. Blood levels of GFAP have been associated with cognitive decline and dementia status. However, further examinations at a population-based level are necessary to broaden generalizability to community settings.\ Circulating GFAP levels were assayed using a Simoa HD-1 analyzer in 4338 adults without prevalent dementia from four longitudinal community-based cohort studies. The associations between GFAP levels with general cognition, total brain volume, and hippocampal volume were evaluated with separate linear regression models in each cohort with adjustment for age, sex, education, race, diabetes, systolic blood pressure, antihypertensive medication, body mass index, apolipoprotein E ε4 status, site, and time between GFAP blood draw and the outcome. Associations with incident all-cause and Alzheimer{\textquoteright}s disease dementia were evaluated with adjusted Cox proportional hazard models. Meta-analysis was performed on the estimates derived from each cohort using random-effects models.\ 0.05). However, each standard deviation unit increase in log-transformed GFAP levels was significantly associated with a 2.5-fold higher risk of incident all-cause dementia (Hazard Ratio [HR]: 2.47 (95\% CI: 1.52-4.01)) and Alzheimer{\textquoteright}s disease dementia (HR: 2.54 [95\% CI: 1.42-4.53]) over up to 15-years of follow-up.\ Results support the potential role of circulating GFAP levels for aiding dementia risk prediction and improving clinical trial stratification in community settings.},
	author = {Gonzales, M. M. and Wiedner, C. and Wang, C. P. and Liu, Q. and Bis, J. C. and Li, Z. and Himali, J. J. and Ghosh, S. and Thomas, E. A. and Parent, D. M. and Kautz, T. F. and Pase, M. P. and Aparicio, H. J. and Djousse, L. and Mukamal, K. J. and Psaty, B. M. and Longstreth, W. T. and Mosley, T. H. and Gudnason, V. and Mbangdadji, D. and Lopez, O. L. and Yaffe, K. and Sidney, S. and Bryan, R. N. and Nasrallah, I. M. and DeCarli, C. S. and Beiser, A. S. and Launer, L. J. and Fornage, M. and Tracy, R. P. and Seshadri, S. and Satizabal, C. L.}
}
@article {9263,
	title = {{A saturated map of common genetic variants associated with human height},
	journal = {Nature},
	volume = {610},
	year = {2022},
	month = {Oct},
	pages = {704{\textendash}712},
	abstract = {) account for 40\% (45\%) of phenotypic variance in populations of European ancestry but only around 10-20\% (14-24\%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries.},
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}
@article {8996,
	title = {{Whole-Genome Sequencing Association Analyses of Stroke and Its Subtypes in Ancestrally Diverse Populations From Trans-Omics for Precision Medicine Project},
	journal = {Stroke},
	volume = {53},
	year = {2022},
	month = {Mar},
	pages = {875{\textendash}885},
	abstract = {Stroke is the leading cause of death and long-term disability worldwide. Previous genome-wide association studies identified 51 loci associated with stroke (mostly ischemic) and its subtypes among predominantly European populations. Using whole-genome sequencing in ancestrally diverse populations from the Trans-Omics for Precision Medicine (TOPMed) Program, we aimed to identify novel variants, especially low-frequency or ancestry-specific variants, associated with all stroke, ischemic stroke and its subtypes (large artery, cardioembolic, and small vessel), and hemorrhagic stroke and its subtypes (intracerebral and subarachnoid).\ Whole-genome sequencing data were available for 6833 stroke cases and 27 116 controls, including 22 315 European, 7877 Black, 2616 Hispanic/Latino, 850 Asian, 54 Native American, and 237 other ancestry participants. In TOPMed, we performed single variant association analysis examining 40 million common variants and aggregated association analysis focusing on rare variants. We also combined TOPMed European populations with over 28 000 additional European participants from the UK BioBank genome-wide array data through meta-analysis.\ .\ We represent the first association analysis for stroke and its subtypes using whole-genome sequencing data from ancestrally diverse populations. While our findings suggest the potential benefits of combining whole-genome sequencing data with populations of diverse genetic backgrounds to identify possible low-frequency or ancestry-specific variants, they also highlight the need to increase genome coverage and sample sizes.},
	author = {Hu, Y. and Haessler, J. W. and Manansala, R. and Wiggins, K. L. and Moscati, A. and Beiser, A. and Heard-Costa, N. L. and Sarnowski, C. and Raffield, L. M. and Chung, J. and Marini, S. and Anderson, C. D. and Rosand, J. and Xu, H. and Sun, X. and Kelly, T. N. and Wong, Q. and Lange, L. A. and Rotter, J. I. and Correa, A. and Vasan, R. S. and Seshadri, S. and Rich, S. S. and Do, R. and Loos, R. J. F. and Longstreth, W. T. and Bis, J. C. and Psaty, B. M. and Tirschwell, D. L. and Assimes, T. L. and Silver, B. and Liu, S. and Jackson, R. and Wassertheil-Smoller, S. and Mitchell, B. D. and Fornage, M. and Auer, P. L. and Reiner, A. P. and Kooperberg, C.}
}
@article {9546,
	title = {{Identification of circulating proteins associated with general cognitive function among middle-aged and older adults},
	journal = {Commun Biol},
	volume = {6},
	year = {2023},
	month = {Nov},
	pages = {1117},
	abstract = {2.0E-4). Proteins implicated as causes or consequences of AD susceptibility may provide new insight into the potential relationship between immunity and AD susceptibility as well as potential therapeutic targets.},
	author = {Tin, A. and Fohner, A. E. and Yang, Q. and Brody, J. A. and Davies, G. and Yao, J. and Liu, D. and Caro, I. and Lindbohm, J. V. and Duggan, M. R. and Meirelles, O. and Harris, S. E. and Gudmundsdottir, V. and Taylor, A. M. and Henry, A. and Beiser, A. S. and Shojaie, A. and Coors, A. and Fitzpatrick, A. L. and Langenberg, C. and Satizabal, C. L. and Sitlani, C. M. and Wheeler, E. and Tucker-Drob, E. M. and Bressler, J. and Coresh, J. and Bis, J. C. and Candia, J. and Jennings, L. L. and Pietzner, M. and Lathrop, M. and Lopez, O. L. and Redmond, P. and Gerszten, R. E. and Rich, S. S. and Heckbert, S. R. and Austin, T. R. and Hughes, T. M. and Tanaka, T. and Emilsson, V. and Vasan, R. S. and Guo, X. and Zhu, Y. and Tzourio, C. and Rotter, J. I. and Walker, K. A. and Ferrucci, L. and ki, M. and Breteler, M. M. B. and Cox, S. R. and Debette, S. and Mosley, T. H. and Gudnason, V. G. and Launer, L. J. and Psaty, B. M. and Seshadri, S. and Fornage, M.}
}
@article {9644,
	title = {{A genetic association study of circulating coagulation Factor VIII and von Willebrand Factor levels},
	journal = {Blood},
	year = {2024},
	month = {Feb},
	abstract = {10-9) at seven new loci for FVIII (ST3GAL4, CLEC4M, B3GNT2, ASGR1, F12, KNG1, and TREM1/NCR2) and one for VWF (B3GNT2). VWF, ABO, and STAB2 were associated with FVIII and VWF in gene-based analyses. Multi-phenotype analysis of FVIII and VWF identified another three new loci, including PDIA3. Silencing of B3GNT2 and the previously reported CD36 gene decreased release of FVIII by HLECs, while silencing of B3GNT2, CD36, and PDIA3 decreased release of VWF by HVECs. Mendelian randomization supports causal association of higher FVIII and VWF with increased risk of thrombotic outcomes. Seven new loci were identified for FVIII and one for VWF, with evidence supporting causal associations of FVIII and VWF with thrombotic outcomes. B3GNT2, CD36, and PDIA3 modulate the release of FVIII and/or VWF in vitro.},
	author = {de Vries, P. S. and Reventun, P. and Brown, M. R. and Heath, A. S. and Huffman, J. E. and Le, N. Q. and Bebo, A. and Brody, J. A. and Temprano-Sagrera, G. and Raffield, L. M. and Ozel, A. B. and Thibord, F. and Jain, D. and Lewis, J. P. and Rodriguez, B. A. T. and Pankratz, N. and Taylor, K. D. and Polasek, O. and Chen, M. H. and Yanek, L. R. and Carrasquilla, G. D. and Marioni, R. and Kleber, M. E. and t, D. A. and Yao, J. and Li-Gao, R. and Joshi, P. K. and Trompet, S. and Martinez-Perez, A. and Ghanbari, M. and Howard, T. E. and Reiner, A. P. and Arvanitis, M. and Ryan, K. A. and Bartz, T. M. and Rudan, I. and Faraday, N. and Linneberg, A. and Ekunwe, L. and Davies, G. and Delgado, G. E. and Suchon, P. and Guo, X. and Rosendaal, F. R. and Klaric, L. and Noordam, R. and van Rooij, F. and Curran, J. E. and Wheeler, M. M. and Osburn, W. O. and O{\textquoteright}Connell, J. R. and Boerwinkle, E. and Beswick, A. and Psaty, B. M. and Kolcic, I. and Souto, J. C. and Becker, L. C. and Hansen, T. and Doyle, M. F. and Harris, S. E. and Moissl, A. P. and Deleuze, J. F. and Rich, S. S. and van Hylckama Vlieg, A. and Campbell, H. and Stott, D. J. and Soria, J. M. and de Maat, M. P. M. and Almasy, L. and Brody, L. C. and Auer, P. L. and Mitchell, B. D. and Ben-Shlomo, Y. and Fornage, M. and Hayward, C. and Mathias, R. A. and inen, T. O. and Lange, L. A. and Cox, S. R. and rz, W. and Morange, P. E. and Rotter, J. I. and Mook-Kanamori, D. O. and Wilson, J. F. and van der Harst, P. and Jukema, J. W. and Ikram, M. A. and Blangero, J. and Kooperberg, C. and Desch, K. C. and Johnson, A. D. and Sabater-Lleal, M. and Lowenstein, C. J. and Smith, N. L. and Morrison, A. C.}
}
