@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 {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 {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 {8982,
	title = {{Obesity Partially Mediates the Diabetogenic Effect of Lowering LDL Cholesterol},
	journal = {Diabetes Care},
	volume = {45},
	year = {2022},
	month = {Jan},
	pages = {232{\textendash}240},
	abstract = {LDL cholesterol (LDLc)-lowering drugs modestly increase body weight and type 2 diabetes risk, but the extent to which the diabetogenic effect of lowering LDLc is mediated through increased BMI is unknown.\ We conducted summary-level univariable and multivariable Mendelian randomization (MR) analyses in 921,908 participants to investigate the effect of lowering LDLc on type 2 diabetes risk and the proportion of this effect mediated through BMI. We used data from 92,532 participants from 14 observational studies to replicate findings in individual-level MR analyses.\ A 1-SD decrease in genetically predicted LDLc was associated with increased type 2 diabetes odds (odds ratio [OR] 1.12 [95\% CI 1.01, 1.24]) and BMI (β = 0.07 SD units [95\% CI 0.02, 0.12]) in univariable MR analyses. The multivariable MR analysis showed evidence of an indirect effect of lowering LDLc on type 2 diabetes through BMI (OR 1.04 [95\% CI 1.01, 1.08]) with a proportion mediated of 38\% of the total effect (P = 0.03). Total and indirect effect estimates were similar across a number of sensitivity analyses. Individual-level MR analyses confirmed the indirect effect of lowering LDLc on type 2 diabetes through BMI with an estimated proportion mediated of 8\% (P = 0.04).\ These findings suggest that the diabetogenic effect attributed to lowering LDLc is partially mediated through increased BMI. Our results could help advance understanding of adipose tissue and lipids in type 2 diabetes pathophysiology and inform strategies to reduce diabetes risk among individuals taking LDLc-lowering medications.},
	author = {Wu, P. and Moon, J. Y. and Daghlas, I. and Franco, G. and Porneala, B. C. and Ahmadizar, F. and Richardson, T. G. and Isaksen, J. L. and Hindy, G. and Yao, J. and Sitlani, C. M. and Raffield, L. M. and Yanek, L. R. and Feitosa, M. F. and Cuadrat, R. R. C. and Qi, Q. and Arfan Ikram, M. and Ellervik, C. and Ericson, U. and Goodarzi, M. O. and Brody, J. A. and Lange, L. and Mercader, J. M. and Vaidya, D. and An, P. and Schulze, M. B. and Masana, L. and Ghanbari, M. and Olesen, M. S. and Cai, J. and Guo, X. and Floyd, J. S. and J{\"a}ger, S. and Province, M. A. and Kalyani, R. R. and Psaty, B. M. and Orho-Melander, M. and Ridker, P. M. and Kanters, J. K. and Uitterlinden, A. and Davey Smith, G. and Gill, D. and Kaplan, R. C. and Kavousi, M. and Raghavan, S. and Chasman, D. I. and Rotter, J. I. and Meigs, J. B. and Florez, J. C. and Dupuis, J. and Liu, C. T. and Merino, J.}
}
