@article {8566,
	title = {{Gene-gene Interaction Analyses for Atrial Fibrillation},
	journal = {Sci Rep},
	volume = {6},
	year = {2016},
	month = {11},
	pages = {35371},
	abstract = {{Atrial fibrillation (AF) is a heritable disease that affects more than thirty million individuals worldwide. Extensive efforts have been devoted to the study of genetic determinants of AF. The objective of our study is to examine the effect of gene-gene interaction on AF susceptibility. We performed a large-scale association analysis of gene-gene interactions with AF in 8,173 AF cases, and 65,237 AF-free referents collected from 15 studies for discovery. We examined putative interactions between genome-wide SNPs and 17 known AF-related SNPs. The top interactions were then tested for association in an independent cohort for replication, which included more than 2,363 AF cases and 114,746 AF-free referents. One interaction, between rs7164883 at the HCN4 locus and rs4980345 at the SLC28A1 locus, was found to be significantly associated with AF in the discovery cohorts (interaction OR = 1.44, 95\% CI: 1.27-1.65},
	author = {Lin, H. and Mueller-Nurasyid, M. and Smith, A. V. and Arking, D. E. and Barnard, J. and Bartz, T. M. and Lunetta, K. L. and Lohman, K. and Kleber, M. E. and Lubitz, S. A. and Geelhoed, B. and Trompet, S. and Niemeijer, M. N. and Kacprowski, T. and Chasman, D. I. and Klarin, D. and Sinner, M. F. and Waldenberger, M. and Meitinger, T. and Harris, T. B. and Launer, L. J. and Soliman, E. Z. and Chen, L. Y. and Smith, J. D. and Van Wagoner, D. R. and Rotter, J. I. and Psaty, B. M. and Xie, Z. and Hendricks, A. E. and Ding, J. and Delgado, G. E. and Verweij, N. and van der Harst, P. and Macfarlane, P. W. and Ford, I. and Hofman, A. and Uitterlinden, A. and Heeringa, J. and Franco, O. H. and Kors, J. A. and Weiss, S. and V?lzke, H. and Rose, L. M. and Natarajan, P. and Kathiresan, S. and K??b, S. and Gudnason, V. and Alonso, A. and Chung, M. K. and Heckbert, S. R. and Benjamin, E. J. and Liu, Y. and M?rz, W. and Rienstra, M. and Jukema, J. W. and Stricker, B. H. and D?rr, M. and Albert, C. M. and Ellinor, P. T.}
}
@article {8569,
	title = {{Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function},
	journal = {Nat Commun},
	volume = {7},
	year = {2016},
	month = {Jan},
	pages = {10023},
	abstract = {Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.},
	author = {Pattaro, C. and Teumer, A. and Gorski, M. and Chu, A. Y. and Li, M. and Mijatovic, V. and Garnaas, M. and Tin, A. and Sorice, R. and Li, Y. and Taliun, D. and Olden, M. and Foster, M. and Yang, Q. and Chen, M. H. and Pers, T. H. and Johnson, A. D. and Ko, Y. A. and Fuchsberger, C. and Tayo, B. and Nalls, M. and Feitosa, M. F. and Isaacs, A. and Dehghan, A. and d{\textquoteright}Adamo, P. and Adeyemo, A. and Dieffenbach, A. K. and Zonderman, A. B. and Nolte, I. M. and van der Most, P. J. and Wright, A. F. and Shuldiner, A. R. and Morrison, A. C. and Hofman, A. and Smith, A. V. and Dreisbach, A. W. and Franke, A. and Uitterlinden, A. G. and Metspalu, A. and Tonjes, A. and Lupo, A. and Robino, A. and Johansson, ?. and Demirkan, A. and Kollerits, B. and Freedman, B. I. and Ponte, B. and Oostra, B. A. and Paulweber, B. and Kr?mer, B. K. and Mitchell, B. D. and Buckley, B. M. and Peralta, C. A. and Hayward, C. and Helmer, C. and Rotimi, C. N. and Shaffer, C. M. and M?ller, C. and Sala, C. and van Duijn, C. M. and Saint-Pierre, A. and Ackermann, D. and Shriner, D. and Ruggiero, D. and Toniolo, D. and Lu, Y. and Cusi, D. and Czamara, D. and Ellinghaus, D. and Siscovick, D. S. and Ruderfer, D. and Gieger, C. and Grallert, H. and Rochtchina, E. and Atkinson, E. J. and Holliday, E. G. and Boerwinkle, E. and Salvi, E. and Bottinger, E. P. and Murgia, F. and Rivadeneira, F. and Ernst, F. and Kronenberg, F. and Hu, F. B. and Navis, G. J. and Curhan, G. C. and Ehret, G. B. and Homuth, G. and Coassin, S. and Thun, G. A. and Pistis, G. and Gambaro, G. and Malerba, G. and Montgomery, G. W. and Eiriksdottir, G. and Jacobs, G. and Li, G. and Wichmann, H. E. and Campbell, H. and Schmidt, H. and Wallaschofski, H. and V?lzke, H. and Brenner, H. and Kroemer, H. K. and Kramer, H. and Lin, H. and Leach, I. M. and Ford, I. and Guessous, I. and Rudan, I. and Prokopenko, I. and Borecki, I. and Heid, I. M. and Kolcic, I. and Persico, I. and Jukema, J. W. and Wilson, J. F. and Felix, J. F. and Divers, J. and Lambert, J. C. and Stafford, J. M. and Gaspoz, J. M. and Smith, J. A. and Faul, J. D. and Wang, J. J. and Ding, J. and Hirschhorn, J. N. and Attia, J. and Whitfield, J. B. and Chalmers, J. and Viikari, J. and Coresh, J. and Denny, J. C. and Karjalainen, J. and Fernandes, J. K. and Endlich, K. and Butterbach, K. and Keene, K. L. and Lohman, K. and Portas, L. and Launer, L. J. and Lyytik?inen, L. P. and Yengo, L. and Franke, L. and Ferrucci, L. and Rose, L. M. and Kedenko, L. and Rao, M. and Struchalin, M. and Kleber, M. E. and Cavalieri, M. and Haun, M. and Cornelis, M. C. and Ciullo, M. and Pirastu, M. and de Andrade, M. and McEvoy, M. A. and Woodward, M. and Adam, M. and Cocca, M. and Nauck, M. and Imboden, M. and Waldenberger, M. and Pruijm, M. and Metzger, M. and Stumvoll, M. and Evans, M. K. and Sale, M. M. and K?h?nen, M. and Boban, M. and Bochud, M. and Rheinberger, M. and Verweij, N. and Bouatia-Naji, N. and Martin, N. G. and Hastie, N. and Probst-Hensch, N. and Soranzo, N. and Devuyst, O. and Raitakari, O. and Gottesman, O. and Franco, O. H. and Polasek, O. and Gasparini, P. and Munroe, P. B. and Ridker, P. M. and Mitchell, P. and Muntner, P. and Meisinger, C. and Smit, J. H. and Kovacs, P. and Wild, P. S. and Froguel, P. and Rettig, R. and M?gi, R. and Biffar, R. and Schmidt, R. and Middelberg, R. P. and Carroll, R. J. and Penninx, B. W. and Scott, R. J. and Katz, R. and Sedaghat, S. and Wild, S. H. and Kardia, S. L. and Ulivi, S. and Hwang, S. J. and Enroth, S. and Kloiber, S. and Trompet, S. and Stengel, B. and Hancock, S. J. and Turner, S. T. and Rosas, S. E. and Stracke, S. and Harris, T. B. and Zeller, T. and Zemunik, T. and Lehtim?ki, T. and Illig, T. and Aspelund, T. and Nikopensius, T. and Esko, T. and Tanaka, T. and Gyllensten, U. and V?lker, U. and Emilsson, V. and Vitart, V. and Aalto, V. and Gudnason, V. and Chouraki, V. and Chen, W. M. and Igl, W. and M?rz, W. and Koenig, W. and Lieb, W. and Loos, R. J. and Liu, Y. and Snieder, H. and Pramstaller, P. P. and Parsa, A. and O{\textquoteright}Connell, J. R. and Susztak, K. and Hamet, P. and Tremblay, J. and De Boer, I. H. and B?ger, C. A. and Goessling, W. and Chasman, D. I. and K?ttgen, A. and Kao, W. H. and Fox, C. S. and Abecasis, G. R. and Adair, L. S. and Alexander, M. and Altshuler, D. and Amin, N. and Arking, D. E. and Arora, P. and Aulchenko, Y. and Bakker, S. J. and Bandinelli, S. and Barroso, I. and Beckmann, J. S. and Beilby, J. P. and Bergman, R. N. and Bergmann, S. and Bis, J. C. and Boehnke, M. and Bonnycastle, L. L. and Bornstein, S. R. and Bots, M. L. and Bragg-Gresham, J. L. and Brand, S. M. and Brand, E. and Braund, P. S. and Brown, M. J. and Burton, P. R. and Casas, J. P. and Caulfield, M. J. and Chakravarti, A. and Chambers, J. C. and Chandak, G. R. and Chang, Y. P. and Charchar, F. J. and Chaturvedi, N. and Shin Cho, Y. and Clarke, R. and Collins, F. S. and Collins, R. and Connell, J. M. and Cooper, J. A. and Cooper, M. N. and Cooper, R. S. and Corsi, A. M. and D?rr, M. and Dahgam, S. and Danesh, J. and Davey Smith, G. and Day, I. N. and Deloukas, P. and Denniff, M. and Dominiczak, A. F. and Dong, Y. and Doumatey, A. and Elliott, P. and Elosua, R. and Erdmann, J. and Eyheramendy, S. and Farrall, M. and Fava, C. and Forrester, T. and Fowkes, F. G. and Fox, E. R. and Frayling, T. M. and Galan, P. and Ganesh, S. K. and Garcia, M. and Gaunt, T. R. and Glazer, N. L. and Go, M. J. and Goel, A. and Gr?ssler, J. and Grobbee, D. E. and Groop, L. and Guarrera, S. and Guo, X. and Hadley, D. and Hamsten, A. and Han, B. G. and Hardy, R. and Hartikainen, A. L. and Heath, S. and Heckbert, S. R. and Hedblad, B. and Hercberg, S. and Hernandez, D. and Hicks, A. A. and Hilton, G. and Hingorani, A. D. and Bolton, J. A. and Hopewell, J. C. and Howard, P. and Humphries, S. E. and Hunt, S. C. and Hveem, K. and Ikram, M. A. and Islam, M. and Iwai, N. and Jarvelin, M. R. and Jackson, A. U. and Jafar, T. H. and Janipalli, C. S. and Johnson, T. and Kathiresan, S. and Khaw, K. T. and Kim, H. L. and Kinra, S. and Kita, Y. and Kivimaki, M. and Kooner, J. S. and Kumar, M. J. and Kuh, D. and Kulkarni, S. R. and Kumari, M. and Kuusisto, J. and Kuznetsova, T. and Laakso, M. and Laan, M. and Laitinen, J. and Lakatta, E. G. and Langefeld, C. D. and Larson, M. G. and Lathrop, M. and Lawlor, D. A. and Lawrence, R. W. and Lee, J. Y. and Lee, N. R. and Levy, D. and Li, Y. and Longstreth, W. T. and Luan, J. and Lucas, G. and Ludwig, B. and Mangino, M. and Mani, K. R. and Marmot, M. G. and Mattace-Raso, F. U. and Matullo, G. and McArdle, W. L. and McKenzie, C. A. and Meitinger, T. and Melander, O. and Meneton, P. and Meschia, J. F. and Miki, T. and Milaneschi, Y. and Mohlke, K. L. and Mooser, V. and Morken, M. A. and Morris, R. W. and Mosley, T. H. and Najjar, S. and Narisu, N. and Newton-Cheh, C. and Nguyen, K. D. and Nilsson, P. and Nyberg, F. and O{\textquoteright}Donnell, C. J. and Ogihara, T. and Ohkubo, T. and Okamura, T. and Ong, R. T. and Ongen, H. and Onland-Moret, N. C. and O{\textquoteright}Reilly, P. F. and Org, E. and Orru, M. and Palmas, W. and Palmen, J. and Palmer, L. J. and Palmer, N. D. and Parker, A. N. and Peden, J. F. and Peltonen, L. and Perola, M. and Pihur, V. and Platou, C. G. and Plump, A. and Prabhakaran, D. and Psaty, B. M. and Raffel, L. J. and Rao, D. C. and Rasheed, A. and Ricceri, F. and Rice, K. M. and Rosengren, A. and Rotter, J. I. and Rudock, M. E. and S?ber, S. and Salako, T. and Saleheen, D. and Salomaa, V. and Samani, N. J. and Schwartz, S. M. and Schwarz, P. E. and Scott, L. J. and Scott, J. and Scuteri, A. and Sehmi, J. S. and Seielstad, M. and Seshadri, S. and Sharma, P. and Shaw-Hawkins, S. and Shi, G. and Shrine, N. R. and Sijbrands, E. J. and Sim, X. and Singleton, A. and Sj?gren, M. and Smith, N. L. and Soler Artigas, M. and Spector, T. D. and Staessen, J. A. and Stancakova, A. and Steinle, N. I. and Strachan, D. P. and Stringham, H. M. and Sun, Y. V. and Swift, A. J. and Tabara, Y. and Tai, E. S. and Talmud, P. J. and Taylor, A. and Terzic, J. and Thelle, D. S. and Tobin, M. D. and Tomaszewski, M. and Tripathy, V. and Tuomilehto, J. and Tzoulaki, I. and Uda, M. and Ueshima, H. and Uiterwaal, C. S. and Umemura, S. and van der Harst, P. and van der Schouw, Y. T. and van Gilst, W. H. and Vartiainen, E. and Vasan, R. S. and Veldre, G. and Verwoert, G. C. and Viigimaa, M. and Vinay, D. G. and Vineis, P. and Voight, B. F. and Vollenweider, P. and Wagenknecht, L. E. and Wain, L. V. and Wang, X. and Wang, T. J. and Wareham, N. J. and Watkins, H. and Weder, A. B. and Whincup, P. H. and Wiggins, K. L. and Witteman, J. C. and Wong, A. and Wu, Y. and Yajnik, C. S. and Yao, J. and Young, J. H. and Zelenika, D. and Zhai, G. and Zhang, W. and Zhang, F. and Zhao, J. H. and Zhu, H. and Zhu, X. and Zitting, P. and Zukowska-Szczechowska, E. and Okada, Y. and Wu, J. Y. and Gu, D. and Takeuchi, F. and Takahashi, A. and Maeda, S. and Tsunoda, T. and Chen, P. and Lim, S. C. and Wong, T. Y. and Liu, J. and Young, T. L. and Aung, T. and Teo, Y. Y. and Kim, Y. J. and Kang, D. and Chen, C. H. and Tsai, F. J. and Chang, L. C. and Fann, S. J. and Mei, H. and Hixson, J. E. and Chen, S. and Katsuya, T. and Isono, M. and Albrecht, E. and Yamamoto, K. and Kubo, M. and Nakamura, Y. and Kamatani, N. and Kato, N. and He, J. and Chen, Y. T. and Tanaka, T. and Reilly, M. P. and Schunkert, H. and Assimes, T. L. and Hall, A. and Hengstenberg, C. and K?nig, I. R. and Laaksonen, R. and McPherson, R. and Thompson, J. R. and Thorsteinsdottir, U. and Ziegler, A. and Absher, D. and Chen, L. and Cupples, L. A. and Halperin, E. and Li, M. and Musunuru, K. and Preuss, M. and Schillert, A. and Thorleifsson, G. and Wells, G. A. and Holm, H. and Roberts, R. and Stewart, A. F. and Fortmann, S. and Go, A. and Hlatky, M. and Iribarren, C. and Knowles, J. and Myers, R. and Quertermous, T. and Sidney, S. and Risch, N. and Tang, H. and Blankenberg, S. and Schnabel, R. and Sinning, C. and Lackner, K. J. and Tiret, L. and Nicaud, V. and Cambien, F. and Bickel, C. and Rupprecht, H. J. and Perret, C. and Proust, C. and M?nzel, T. F. and Barbalic, M. and Chen, I. Y. and Demissie-Banjaw, S. and Folsom, A. and Lumley, T. and Marciante, K. and Taylor, K. D. and Volcik, K. and Gretarsdottir, S. and Gulcher, J. R. and Kong, A. and Stefansson, K. and Thorgeirsson, G. and Andersen, K. and Fischer, M. and Grosshennig, A. and Linsel-Nitschke, P. and Stark, K. and Schreiber, S. and Aherrahrou, Z. and Bruse, P. and Doering, A. and Klopp, N. and Diemert, P. and Loley, C. and Medack, A. and Nahrstedt, J. and Peters, A. and Wagner, A. K. and Willenborg, C. and B?hm, B. O. and Dobnig, H. and Grammer, T. B. and Hoffmann, M. M. and Meinitzer, A. and Winkelmann, B. R. and Pilz, S. and Renner, W. and Scharnagl, H. and Stojakovic, T. and Tomaschitz, A. and Winkler, K. and Guiducci, C. and Burtt, N. and Gabriel, S. B. and Dandona, S. and Jarinova, O. and Qu, L. and Wilensky, R. and Matthai, W. and Hakonarson, H. H. and Devaney, J. and Burnett, M. S. and Pichard, A. D. and Kent, K. M. and Satler, L. and Lindsay, J. M. and Waksman, R. and Knouff, C. W. and Waterworth, D. M. and Walker, M. C. and Epstein, S. E. and Rader, D. J. and Nelson, C. P. and Wright, B. J. and Balmforth, A. J. and Ball, S. G. and Loehr, L. R. and Rosamond, W. D. and Benjamin, E. and Haritunians, T. and Couper, D. and Murabito, J. and Wang, Y. A. and Stricker, B. H. and Chang, P. P. and Willerson, J. T. and Felix, S. B. and Watzinger, N. and Aragam, J. and Zweiker, R. and Lind, L. and Rodeheffer, R. J. and Greiser, K. H. and Deckers, J. W. and Stritzke, J. and Ingelsson, E. and Kullo, I. and Haerting, J. and Reffelmann, T. and Redfield, M. M. and Werdan, K. and Mitchell, G. F. and Arnett, D. K. and Gottdiener, J. S. and Blettner, M. and Friedrich, N.}
}
@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 {9462,
	title = {740 adults from 20 prospective cohort studies},
	journal = {Lancet Diabetes Endocrinol},
	volume = {5},
	year = {2017},
	month = {Dec},
	pages = {965{\textendash}974},
	abstract = {The metabolic effects of omega-6 polyunsaturated fatty acids (PUFAs) remain contentious, and little evidence is available regarding their potential role in primary prevention of type 2 diabetes. We aimed to assess the associations of linoleic acid and arachidonic acid biomarkers with incident type 2 diabetes.\ We did a pooled analysis of new, harmonised, individual-level analyses for the biomarkers linoleic acid and its metabolite arachidonic acid and incident type 2 diabetes. We analysed data from 20 prospective cohort studies from ten countries (Iceland, the Netherlands, the USA, Taiwan, the UK, Germany, Finland, Australia, Sweden, and France), with biomarkers sampled between 1970 and 2010. Participants included in the analyses were aged 18 years or older and had data available for linoleic acid and arachidonic acid biomarkers at baseline. We excluded participants with type 2 diabetes at baseline. The main outcome was the association between omega-6 PUFA biomarkers and incident type 2 diabetes. We assessed the relative risk of type 2 diabetes prospectively for each cohort and lipid compartment separately using a prespecified analytic plan for exposures, covariates, effect modifiers, and analysis, and the findings were then pooled using inverse-variance weighted meta-analysis.\ 13).\ Findings suggest that linoleic acid has long-term benefits for the prevention of type 2 diabetes and that arachidonic acid is not harmful.\ Funders are shown in the appendix.},
	author = {Wu, J. H. Y. and Marklund, M. and Imamura, F. and Tintle, N. and Ardisson Korat, A. V. and de Goede, J. and Zhou, X. and Yang, W. S. and de Oliveira Otto, M. C. and ger, J. and Qureshi, W. and Virtanen, J. K. and Bassett, J. K. and Frazier-Wood, A. C. and Lankinen, M. and Murphy, R. A. and Rajaobelina, K. and Del Gobbo, L. C. and Forouhi, N. G. and Luben, R. and Khaw, K. T. and Wareham, N. and Kalsbeek, A. and Veenstra, J. and Luo, J. and Hu, F. B. and Lin, H. J. and Siscovick, D. S. and Boeing, H. and Chen, T. A. and Steffen, B. and Steffen, L. M. and Hodge, A. and Eriksdottir, G. and Smith, A. V. and Gudnason, V. and Harris, T. B. and Brouwer, I. A. and Berr, C. and Helmer, C. and Samieri, C. and Laakso, M. and Tsai, M. Y. and Giles, G. G. and Nurmi, T. and Wagenknecht, L. and Schulze, M. B. and Lemaitre, R. N. and Chien, K. L. and Soedamah-Muthu, S. S. and Geleijnse, J. M. and Sun, Q. and Harris, W. S. and Lind, L. and v, J. and Riserus, U. and Micha, R. and Mozaffarian, D.}
}
@article {8554,
	title = {{Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits},
	journal = {Nat Commun},
	volume = {8},
	year = {2017},
	month = {04},
	pages = {14977},
	abstract = {Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87\% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.},
	author = {Justice, A. E. and Winkler, T. W. and Feitosa, M. F. and Graff, M. and Fisher, V. A. and Young, K. and Barata, L. and Deng, X. and Czajkowski, J. and Hadley, D. and Ngwa, J. S. and Ahluwalia, T. S. and Chu, A. Y. and Heard-Costa, N. L. and Lim, E. and Perez, J. and Eicher, J. D. and Kutalik, Z. and Xue, L. and Mahajan, A. and Renstr?m, F. and Wu, J. and Qi, Q. and Ahmad, S. and Alfred, T. and Amin, N. and Bielak, L. F. and Bonnefond, A. and Bragg, J. and Cadby, G. and Chittani, M. and Coggeshall, S. and Corre, T. and Direk, N. and Eriksson, J. and Fischer, K. and Gorski, M. and Neergaard Harder, M. and Horikoshi, M. and Huang, T. and Huffman, J. E. and Jackson, A. U. and Justesen, J. M. and Kanoni, S. and Kinnunen, L. and Kleber, M. E. and Komulainen, P. and Kumari, M. and Lim, U. and Luan, J. and Lyytik?inen, L. P. and Mangino, M. and Manichaikul, A. and Marten, J. and Middelberg, R. P. S. and M?ller-Nurasyid, M. and Navarro, P. and P?russe, L. and Pervjakova, N. and Sarti, C. and Smith, A. V. and Smith, J. A. and Stan??kov?, A. and Strawbridge, R. J. and Stringham, H. M. and Sung, Y. J. and Tanaka, T. and Teumer, A. and Trompet, S. and van der Laan, S. W. and van der Most, P. J. and Van Vliet-Ostaptchouk, J. V. and Vedantam, S. L. and Verweij, N. and Vink, J. M. and Vitart, V. and Wu, Y. and Yengo, L. and Zhang, W. and Hua Zhao, J. and Zimmermann, M. E. and Zubair, N. and Abecasis, G. R. and Adair, L. S. and Afaq, S. and Afzal, U. and Bakker, S. J. L. and Bartz, T. M. and Beilby, J. and Bergman, R. N. and Bergmann, S. and Biffar, R. and Blangero, J. and Boerwinkle, E. and Bonnycastle, L. L. and Bottinger, E. and Braga, D. and Buckley, B. M. and Buyske, S. and Campbell, H. and Chambers, J. C. and Collins, F. S. and Curran, J. E. and de Borst, G. J. and de Craen, A. J. M. and de Geus, E. J. C. and Dedoussis, G. and Delgado, G. E. and den Ruijter, H. M. and Eiriksdottir, G. and Eriksson, A. L. and Esko, T. and Faul, J. D. and Ford, I. and Forrester, T. and Gertow, K. and Gigante, B. and Glorioso, N. and Gong, J. and Grallert, H. and Grammer, T. B. and Grarup, N. and Haitjema, S. and Hallmans, G. and Hamsten, A. and Hansen, T. and Harris, T. B. and Hartman, C. A. and Hassinen, M. and Hastie, N. D. and Heath, A. C. and Hernandez, D. and Hindorff, L. and Hocking, L. J. and Hollensted, M. and Holmen, O. L. and Homuth, G. and Jan Hottenga, J. and Huang, J. and Hung, J. and Hutri-K?h?nen, N. and Ingelsson, E. and James, A. L. and Jansson, J. O. and Jarvelin, M. R. and Jhun, M. A. and J?rgensen, M. E. and Juonala, M. and K?h?nen, M. and Karlsson, M. and Koistinen, H. A. and Kolcic, I. and Kolovou, G. and Kooperberg, C. and Kr?mer, B. K. and Kuusisto, J. and Kval?y, K. and Lakka, T. A. and Langenberg, C. and Launer, L. J. and Leander, K. and Lee, N. R. and Lind, L. and Lindgren, C. M. and Linneberg, A. and Lobbens, S. and Loh, M. and Lorentzon, M. and Luben, R. and Lubke, G. and Ludolph-Donislawski, A. and Lupoli, S. and Madden, P. A. F. and M?nnikk?, R. and Marques-Vidal, P. and Martin, N. G. and McKenzie, C. A. and McKnight, B. and Mellstr?m, D. and Menni, C. and Montgomery, G. W. and Musk, A. B. and Narisu, N. and Nauck, M. and Nolte, I. M. and Oldehinkel, A. J. and Olden, M. and Ong, K. K. and Padmanabhan, S. and Peyser, P. A. and Pisinger, C. and Porteous, D. J. and Raitakari, O. T. and Rankinen, T. and Rao, D. C. and Rasmussen-Torvik, L. J. and Rawal, R. and Rice, T. and Ridker, P. M. and Rose, L. M. and Bien, S. A. and Rudan, I. and Sanna, S. and Sarzynski, M. A. and Sattar, N. and Savonen, K. and Schlessinger, D. and Scholtens, S. and Schurmann, C. and Scott, R. A. and Sennblad, B. and Siemelink, M. A. and Silbernagel, G. and Slagboom, P. E. and Snieder, H. and Staessen, J. A. and Stott, D. J. and Swertz, M. A. and Swift, A. J. and Taylor, K. D. and Tayo, B. O. and Thorand, B. and Thuillier, D. and Tuomilehto, J. and Uitterlinden, A. G. and Vandenput, L. and Vohl, M. C. and V?lzke, H. and Vonk, J. M. and Waeber, G. and Waldenberger, M. and Westendorp, R. G. J. and Wild, S. and Willemsen, G. and Wolffenbuttel, B. H. R. and Wong, A. and Wright, A. F. and Zhao, W. and Zillikens, M. C. and Baldassarre, D. and Balkau, B. and Bandinelli, S. and B?ger, C. A. and Boomsma, D. I. and Bouchard, C. and Bruinenberg, M. and Chasman, D. I. and Chen, Y. D. and Chines, P. S. and Cooper, R. S. and Cucca, F. and Cusi, D. and Faire, U. and Ferrucci, L. and Franks, P. W. and Froguel, P. and Gordon-Larsen, P. and Grabe, H. J. and Gudnason, V. and Haiman, C. A. and Hayward, C. and Hveem, K. and Johnson, A. D. and Wouter Jukema, J. and Kardia, S. L. R. and Kivimaki, M. and Kooner, J. S. and Kuh, D. and Laakso, M. and Lehtim?ki, T. and Marchand, L. L. and M?rz, W. and McCarthy, M. I. and Metspalu, A. and Morris, A. P. and Ohlsson, C. and Palmer, L. J. and Pasterkamp, G. and Pedersen, O. and Peters, A. and Peters, U. and Polasek, O. and Psaty, B. M. and Qi, L. and Rauramaa, R. and Smith, B. H. and S?rensen, T. I. A. and Strauch, K. and Tiemeier, H. and Tremoli, E. and van der Harst, P. and Vestergaard, H. and Vollenweider, P. and Wareham, N. J. and Weir, D. R. and Whitfield, J. B. and Wilson, J. F. and Tyrrell, J. and Frayling, T. M. and Barroso, I. and Boehnke, M. and Deloukas, P. and Fox, C. S. and Hirschhorn, J. N. and Hunter, D. J. and Spector, T. D. and Strachan, D. P. and van Duijn, C. M. and Heid, I. M. and Mohlke, K. L. and Marchini, J. and Loos, R. J. F. and Kilpel?inen, T. O. and Liu, C. T. and Borecki, I. B. and North, K. E. and Cupples, L. A.}
}
@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 {8530,
	title = {{Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria},
	journal = {Nat Commun},
	volume = {10},
	year = {2019},
	month = {09},
	pages = {4130},
	abstract = {Increased levels of the urinary albumin-to-creatinine ratio (UACR) are associated with higher risk of kidney disease progression and cardiovascular events, but underlying mechanisms are incompletely understood. Here, we conduct trans-ethnic (n = 564,257) and European-ancestry specific meta-analyses of genome-wide association studies of UACR, including ancestry- and diabetes-specific analyses, and identify 68 UACR-associated loci. Genetic correlation analyses and risk score associations in an independent electronic medical records database (n = 192,868) reveal connections with proteinuria, hyperlipidemia, gout, and hypertension. Fine-mapping and trans-Omics analyses with gene expression in 47 tissues and plasma protein levels implicate genes potentially operating through differential expression in kidney (including TGFB1, MUC1, PRKCI, and OAF), and allow coupling of UACR associations to altered plasma OAF concentrations. Knockdown of OAF and PRKCI orthologs in Drosophila nephrocytes reduces albumin endocytosis. Silencing fly PRKCI further impairs slit diaphragm formation. These results generate a priority list of genes and pathways for translational research to reduce albuminuria.},
	author = {Teumer, A. and Li, Y. and Ghasemi, S. and Prins, B. P. and Wuttke, M. and Hermle, T. and Giri, A. and Sieber, K. B. and Qiu, C. and Kirsten, H. and Tin, A. and Chu, A. Y. and Bansal, N. and Feitosa, M. F. and Wang, L. and Chai, J. F. and Cocca, M. and Fuchsberger, C. and Gorski, M. and Hoppmann, A. and Horn, K. and Li, M. and Marten, J. and Noce, D. and Nutile, T. and Sedaghat, S. and Sveinbjornsson, G. and Tayo, B. O. and van der Most, P. J. and Xu, Y. and Yu, Z. and Gerstner, L. and ?rnl?v, J. and Bakker, S. J. L. and Baptista, D. and Biggs, M. L. and Boerwinkle, E. and Brenner, H. and Burkhardt, R. and Carroll, R. J. and Chee, M. L. and Chee, M. L. and Chen, M. and Cheng, C. Y. and Cook, J. P. and Coresh, J. and Corre, T. and Danesh, J. and de Borst, M. H. and De Grandi, A. and de Mutsert, R. and de Vries, A. P. J. and Degenhardt, F. and Dittrich, K. and Divers, J. and Eckardt, K. U. and Ehret, G. and Endlich, K. and Felix, J. F. and Franco, O. H. and Franke, A. and Freedman, B. I. and Freitag-Wolf, S. and Gansevoort, R. T. and Giedraitis, V. and G?gele, M. and Grundner-Culemann, F. and Gudbjartsson, D. F. and Gudnason, V. and Hamet, P. and Harris, T. B. and Hicks, A. A. and Holm, H. and Foo, V. H. X. and Hwang, S. J. and Ikram, M. A. and Ingelsson, E. and Jaddoe, V. W. V. and Jakobsdottir, J. and Josyula, N. S. and Jung, B. and K?h?nen, M. and Khor, C. C. and Kiess, W. and Koenig, W. and K?rner, A. and Kovacs, P. and Kramer, H. and Kr?mer, B. K. and Kronenberg, F. and Lange, L. A. and Langefeld, C. D. and Lee, J. J. and Lehtim?ki, T. and Lieb, W. and Lim, S. C. and Lind, L. and Lindgren, C. M. and Liu, J. and Loeffler, M. and Lyytik?inen, L. P. and Mahajan, A. and Maranville, J. C. and Mascalzoni, D. and McMullen, B. and Meisinger, C. and Meitinger, T. and Miliku, K. and Mook-Kanamori, D. O. and M?ller-Nurasyid, M. and Mychaleckyj, J. C. and Nauck, M. and Nikus, K. and Ning, B. and Noordam, R. and Connell, J. O. and Olafsson, I. and Palmer, N. D. and Peters, A. and Podgornaia, A. I. and Ponte, B. and Poulain, T. and Pramstaller, P. P. and Rabelink, T. J. and Raffield, L. M. and Reilly, D. F. and Rettig, R. and Rheinberger, M. and Rice, K. M. and Rivadeneira, F. and Runz, H. and Ryan, K. A. and Sabanayagam, C. and Saum, K. U. and Sch?ttker, B. and Shaffer, C. M. and Shi, Y. and Smith, A. V. and Strauch, K. and Stumvoll, M. and Sun, B. B. and Szymczak, S. and Tai, E. S. and Tan, N. Y. Q. and Taylor, K. D. and Teren, A. and Tham, Y. C. and Thiery, J. and Thio, C. H. L. and Thomsen, H. and Thorsteinsdottir, U. and T?njes, A. and Tremblay, J. and Uitterlinden, A. G. and van der Harst, P. and Verweij, N. and Vogelezang, S. and V?lker, U. and Waldenberger, M. and Wang, C. and Wilson, O. D. and Wong, C. and Wong, T. Y. and Yang, Q. and Yasuda, M. and Akilesh, S. and Bochud, M. and B?ger, C. A. and Devuyst, O. and Edwards, T. L. and Ho, K. and Morris, A. P. and Parsa, A. and Pendergrass, S. A. and Psaty, B. M. and Rotter, J. I. and Stefansson, K. and Wilson, J. G. and Susztak, K. and Snieder, H. and Heid, I. M. and Scholz, M. and Butterworth, A. S. and Hung, A. M. and Pattaro, C. and K?ttgen, A.}
}
@article {8534,
	title = {{A genome-wide association study identifies genetic loci associated with specific lobar brain volumes},
	journal = {Commun Biol},
	volume = {2},
	year = {2019},
	pages = {285},
	abstract = {Brain lobar volumes are heritable but genetic studies are limited. We performed genome-wide association studies of frontal, occipital, parietal and temporal lobe volumes in 16,016 individuals, and replicated our findings in 8,789 individuals. We identified six genetic loci associated with specific lobar volumes independent of intracranial volume. Two loci, associated with occipital (6q22.32) and temporal lobe volume (12q14.3), were previously reported to associate with intracranial and hippocampal volume, respectively. We identified four loci previously unknown to affect brain volumes: 3q24 for parietal lobe volume, and 1q22, 4p16.3 and 14q23.1 for occipital lobe volume. The associated variants were located in regions enriched for histone modifications (DAAM1 and THBS3), or close to genes causing Mendelian brain-related diseases (ZIC4 and FGFRL1). No genetic overlap between lobar volumes and neurological or psychiatric diseases was observed. Our findings reveal part of the complex genetics underlying brain development and suggest a role for regulatory regions in determining brain volumes.},
	author = {van der Lee, S. J. and Knol, M. J. and Chauhan, G. and Satizabal, C. L. and Smith, A. V. and Hofer, E. and Bis, J. C. and Hibar, D. P. and Hilal, S. and van den Akker, E. B. and Arfanakis, K. and Bernard, M. and Yanek, L. R. and Amin, N. and Crivello, F. and Cheung, J. W. and Harris, T. B. and Saba, Y. and Lopez, O. L. and Li, S. and van der Grond, J. and Yu, L. and Paus, T. and Roshchupkin, G. V. and Amouyel, P. and Jahanshad, N. and Taylor, K. D. and Yang, Q. and Mathias, R. A. and Boehringer, S. and Mazoyer, B. and Rice, K. and Cheng, C. Y. and Maillard, P. and van Heemst, D. and Wong, T. Y. and Niessen, W. J. and Beiser, A. S. and Beekman, M. and Zhao, W. and Nyquist, P. A. and Chen, C. and Launer, L. J. and Psaty, B. M. and Ikram, M. K. and Vernooij, M. W. and Schmidt, H. and Pausova, Z. and Becker, D. M. and De Jager, P. L. and Thompson, P. M. and van Duijn, C. M. and Bennett, D. A. and Slagboom, P. E. and Schmidt, R. and Longstreth, W. T. and Ikram, M. A. and Seshadri, S. and Debette, S. and Gudnason, V. and Adams, H. H. H. and DeCarli, C.}
}
@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 {8510,
	title = {{A meta-analysis of genome-wide association studies identifies multiple longevity genes},
	journal = {Nat Commun},
	volume = {10},
	year = {2019},
	month = {08},
	pages = {3669},
	abstract = {Human longevity is heritable, but genome-wide association (GWA) studies have had limited success. Here, we perform two meta-analyses of GWA studies of a rigorous longevity phenotype definition including 11,262/3484 cases surviving at or beyond the age corresponding to the 90th/99th survival percentile, respectively, and 25,483 controls whose age at death or at last contact was at or below the age corresponding to the 60th survival percentile. Consistent with previous reports, rs429358 (apolipoprotein E (ApoE) {\^I}{\textmu}4) is associated with lower odds of surviving to the 90th and 99th percentile age, while rs7412 (ApoE {\^I}{\textmu}2) shows the opposite. Moreover, rs7676745, located near GPR78, associates with lower odds of surviving to the 90th percentile age. Gene-level association analysis reveals a role for tissue-specific expression of multiple genes in longevity. Finally, genetic correlation of the longevity GWA results with that of several disease-related phenotypes points to a shared genetic architecture between health and longevity.},
	author = {Deelen, J. and Evans, D. S. and Arking, D. E. and Tesi, N. and Nygaard, M. and Liu, X. and Wojczynski, M. K. and Biggs, M. L. and van der Spek, A. and Atzmon, G. and Ware, E. B. and Sarnowski, C. and Smith, A. V. and Sepp?l?, I. and Cordell, H. J. and Dose, J. and Amin, N. and Arnold, A. M. and Ayers, K. L. and Barzilai, N. and Becker, E. J. and Beekman, M. and Blanch?, H. and Christensen, K. and Christiansen, L. and Collerton, J. C. and Cubaynes, S. and Cummings, S. R. and Davies, K. and Debrabant, B. and Deleuze, J. F. and Duncan, R. and Faul, J. D. and Franceschi, C. and Galan, P. and Gudnason, V. and Harris, T. B. and Huisman, M. and Hurme, M. A. and Jagger, C. and Jansen, I. and Jylh?, M. and K?h?nen, M. and Karasik, D. and Kardia, S. L. R. and Kingston, A. and Kirkwood, T. B. L. and Launer, L. J. and Lehtim?ki, T. and Lieb, W. and Lyytik?inen, L. P. and Martin-Ruiz, C. and Min, J. and Nebel, A. and Newman, A. B. and Nie, C. and Nohr, E. A. and Orwoll, E. S. and Perls, T. T. and Province, M. A. and Psaty, B. M. and Raitakari, O. T. and Reinders, M. J. T. and Robine, J. M. and Rotter, J. I. and Sebastiani, P. and Smith, J. and S?rensen, T. I. A. and Taylor, K. D. and Uitterlinden, A. G. and van der Flier, W. and van der Lee, S. J. and van Duijn, C. M. and van Heemst, D. and Vaupel, J. W. and Weir, D. and Ye, K. and Zeng, Y. and Zheng, W. and Holstege, H. and Kiel, D. P. and Lunetta, K. L. and Slagboom, P. E. and Murabito, J. M.}
}
@article {9310,
	title = {{A meta-analysis of genome-wide association studies identifies multiple longevity genes},
	journal = {Nat Commun},
	volume = {10},
	year = {2019},
	month = {Aug},
	pages = {3669},
	abstract = {2) shows the opposite. Moreover, rs7676745, located near GPR78, associates with lower odds of surviving to the 90th percentile age. Gene-level association analysis reveals a role for tissue-specific expression of multiple genes in longevity. Finally, genetic correlation of the longevity GWA results with that of several disease-related phenotypes points to a shared genetic architecture between health and longevity.},
	author = {Deelen, J. and Evans, D. S. and Arking, D. E. and Tesi, N. and Nygaard, M. and Liu, X. and Wojczynski, M. K. and Biggs, M. L. and van der Spek, A. and Atzmon, G. and Ware, E. B. and Sarnowski, C. and Smith, A. V. and {\"a}, I. and Cordell, H. J. and Dose, J. and Amin, N. and Arnold, A. M. and Ayers, K. L. and Barzilai, N. and Becker, E. J. and Beekman, M. and {\'e}, H. and Christensen, K. and Christiansen, L. and Collerton, J. C. and Cubaynes, S. and Cummings, S. R. and Davies, K. and Debrabant, B. and Deleuze, J. F. and Duncan, R. and Faul, J. D. and Franceschi, C. and Galan, P. and Gudnason, V. and Harris, T. B. and Huisman, M. and Hurme, M. A. and Jagger, C. and Jansen, I. and {\"a}, M. and nen, M. and Karasik, D. and Kardia, S. L. R. and Kingston, A. and Kirkwood, T. B. L. and Launer, L. J. and ki, T. and Lieb, W. and inen, L. P. and Martin-Ruiz, C. and Min, J. and Nebel, A. and Newman, A. B. and Nie, C. and Nohr, E. A. and Orwoll, E. S. and Perls, T. T. and Province, M. A. and Psaty, B. M. and Raitakari, O. T. and Reinders, M. J. T. and Robine, J. M. and Rotter, J. I. and Sebastiani, P. and Smith, J. and rensen, T. I. A. and Taylor, K. D. and Uitterlinden, A. G. and van der Flier, W. and van der Lee, S. J. and van Duijn, C. M. and van Heemst, D. and Vaupel, J. W. and Weir, D. and Ye, K. and Zeng, Y. and Zheng, W. and Holstege, H. and Kiel, D. P. and Lunetta, K. L. and Slagboom, P. E. and Murabito, J. M.}
}
@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 {8917,
	title = {{Rare and low-frequency exonic variants and gene-by-smoking interactions in pulmonary function},
	journal = {Sci Rep},
	volume = {11},
	year = {2021},
	month = {09},
	pages = {19365},
	abstract = {. This study investigates the utility of assessing gene-by-smoking interactions and underscores their effects on potential pulmonary function.},
	author = {Yang, T. and Jackson, V. E. and Smith, A. V. and Chen, H. and Bartz, T. M. and Sitlani, C. M. and Psaty, B. M. and Gharib, S. A. and O{\textquoteright}Connor, G. T. and Dupuis, J. and Xu, J. and Lohman, K. and Liu, Y. and Kritchevsky, S. B. and Cassano, P. A. and Flexeder, C. and Gieger, C. and Karrasch, S. and Peters, A. and Schulz, H. and Harris, S. E. and Starr, J. M. and Deary, I. J. and Manichaikul, A. and Oelsner, E. C. and Barr, R. G. and Taylor, K. D. and Rich, S. S. and Bonten, T. N. and Mook-Kanamori, D. O. and Noordam, R. and Li-Gao, R. and Jarvelin, M. R. and Wielscher, M. and Terzikhan, N. and Lahousse, L. and Brusselle, G. and Weiss, S. and Ewert, R. and Gl{\"a}ser, S. and Homuth, G. and Shrine, N. and Hall, I. P. and Tobin, M. and London, S. J. and Wei, P. and Morrison, A. C.}
}
@article {8618,
	title = {{Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability},
	journal = {Nat Commun},
	volume = {12},
	year = {2021},
	month = {01},
	pages = {24},
	abstract = {Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, the genetic component underlying this phenomenon is not established. We assess sex-dimorphic (73,089/50,404 women and 67,506/47,806 men) and sex-combined (151,188/105,056 individuals) fasting glucose/fasting insulin genetic effects via genome-wide association study meta-analyses in individuals of European descent without diabetes. Here we report sex dimorphism in allelic effects on fasting insulin at IRS1 and ZNF12 loci, the latter showing higher RNA expression in whole blood in women compared to men. We also observe sex-homogeneous effects on fasting glucose at seven novel loci. Fasting insulin in women shows stronger genetic correlations than in men with waist-to-hip ratio and anorexia nervosa. Furthermore, waist-to-hip ratio is causally related to insulin resistance in women, but not in men. These results position dissection of metabolic and glycemic health sex dimorphism as a steppingstone for understanding differences in genetic effects between women and men in related phenotypes.},
	author = {Lagou, V. and M?gi, R. and Hottenga, J. J. and Grallert, H. and Perry, J. R. B. and Bouatia-Naji, N. and Marullo, L. and Rybin, D. and Jansen, R. and Min, J. L. and Dimas, A. S. and Ulrich, A. and Zudina, L. and G?din, J. R. and Jiang, L. and Faggian, A. and Bonnefond, A. and Fadista, J. and Stathopoulou, M. G. and Isaacs, A. and Willems, S. M. and Navarro, P. and Tanaka, T. and Jackson, A. U. and Montasser, M. E. and O{\textquoteright}Connell, J. R. and Bielak, L. F. and Webster, R. J. and Saxena, R. and Stafford, J. M. and Pourcain, B. S. and Timpson, N. J. and Salo, P. and Shin, S. Y. and Amin, N. and Smith, A. V. and Li, G. and Verweij, N. and Goel, A. and Ford, I. and Johnson, P. C. D. and Johnson, T. and Kapur, K. and Thorleifsson, G. and Strawbridge, R. J. and Rasmussen-Torvik, L. J. and Esko, T. and Mihailov, E. and Fall, T. and Fraser, R. M. and Mahajan, A. and Kanoni, S. and Giedraitis, V. and Kleber, M. E. and Silbernagel, G. and Meyer, J. and M?ller-Nurasyid, M. and Ganna, A. and Sarin, A. P. and Yengo, L. and Shungin, D. and Luan, J. and Horikoshi, M. and An, P. and Sanna, S. and Boettcher, Y. and Rayner, N. W. and Nolte, I. M. and Zemunik, T. and Iperen, E. V. and Kovacs, P. and Hastie, N. D. and Wild, S. H. and McLachlan, S. and Campbell, S. and Polasek, O. and Carlson, O. and Egan, J. and Kiess, W. and Willemsen, G. and Kuusisto, J. and Laakso, M. and Dimitriou, M. and Hicks, A. A. and Rauramaa, R. and Bandinelli, S. and Thorand, B. and Liu, Y. and Miljkovic, I. and Lind, L. and Doney, A. and Perola, M. and Hingorani, A. and Kivimaki, M. and Kumari, M. and Bennett, A. J. and Groves, C. J. and Herder, C. and Koistinen, H. A. and Kinnunen, L. and Faire, U. and Bakker, S. J. L. and Uusitupa, M. and Palmer, C. N. A. and Jukema, J. W. and Sattar, N. and Pouta, A. and Snieder, H. and Boerwinkle, E. and Pankow, J. S. and Magnusson, P. K. and Krus, U. and Scapoli, C. and de Geus, E. J. C. N. and Bl?her, M. and Wolffenbuttel, B. H. R. and Province, M. A. and Abecasis, G. R. and Meigs, J. B. and Hovingh, G. K. and Lindstr?m, J. and Wilson, J. F. and Wright, A. F. and Dedoussis, G. V. and Bornstein, S. R. and Schwarz, P. E. H. and T?njes, A. and Winkelmann, B. R. and Boehm, B. O. and M?rz, W. and Metspalu, A. and Price, J. F. and Deloukas, P. and K?rner, A. and Lakka, T. A. and Keinanen-Kiukaanniemi, S. M. and Saaristo, T. E. and Bergman, R. N. and Tuomilehto, J. and Wareham, N. J. and Langenberg, C. and M?nnist?, S. and Franks, P. W. and Hayward, C. and Vitart, V. and Kaprio, J. and Visvikis-Siest, S. and Balkau, B. and Altshuler, D. and Rudan, I. and Stumvoll, M. and Campbell, H. and van Duijn, C. M. and Gieger, C. and Illig, T. and Ferrucci, L. and Pedersen, N. L. and Pramstaller, P. P. and Boehnke, M. and Frayling, T. M. and Shuldiner, A. R. and Peyser, P. A. and Kardia, S. L. R. and Palmer, L. J. and Penninx, B. W. and Meneton, P. and Harris, T. B. and Navis, G. and Harst, P. V. and Smith, G. D. and Forouhi, N. G. and Loos, R. J. F. and Salomaa, V. and Soranzo, N. and Boomsma, D. I. and Groop, L. and Tuomi, T. and Hofman, A. and Munroe, P. B. and Gudnason, V. and Siscovick, D. S. and Watkins, H. and Lecoeur, C. and Vollenweider, P. and Franco-Cereceda, A. and Eriksson, P. and Jarvelin, M. R. and Stefansson, K. and Hamsten, A. and Nicholson, G. and Karpe, F. and Dermitzakis, E. T. and Lindgren, C. M. and McCarthy, M. I. and Froguel, P. and Kaakinen, M. A. and Lyssenko, V. and Watanabe, R. M. and Ingelsson, E. and Florez, J. C. and Dupuis, J. and Barroso, I. and Morris, A. P. and Prokopenko, I.}
}
@article {8663,
	title = {{Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability},
	journal = {Nat Commun},
	volume = {12},
	year = {2021},
	month = {01},
	pages = {24},
	abstract = {Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, the genetic component underlying this phenomenon is not established. We assess sex-dimorphic (73,089/50,404 women and 67,506/47,806 men) and sex-combined (151,188/105,056 individuals) fasting glucose/fasting insulin genetic effects via genome-wide association study meta-analyses in individuals of European descent without diabetes. Here we report sex dimorphism in allelic effects on fasting insulin at IRS1 and ZNF12 loci, the latter showing higher RNA expression in whole blood in women compared to men. We also observe sex-homogeneous effects on fasting glucose at seven novel loci. Fasting insulin in women shows stronger genetic correlations than in men with waist-to-hip ratio and anorexia nervosa. Furthermore, waist-to-hip ratio is causally related to insulin resistance in women, but not in men. These results position dissection of metabolic and glycemic health sex dimorphism as a steppingstone for understanding differences in genetic effects between women and men in related phenotypes.},
	author = {Lagou, V. and M{\"a}gi, R. and Hottenga, J. J. and Grallert, H. and Perry, J. R. B. and Bouatia-Naji, N. and Marullo, L. and Rybin, D. and Jansen, R. and Min, J. L. and Dimas, A. S. and Ulrich, A. and Zudina, L. and G{\r a}din, J. R. and Jiang, L. and Faggian, A. and Bonnefond, A. and Fadista, J. and Stathopoulou, M. G. and Isaacs, A. and Willems, S. M. and Navarro, P. and Tanaka, T. and Jackson, A. U. and Montasser, M. E. and O{\textquoteright}Connell, J. R. and Bielak, L. F. and Webster, R. J. and Saxena, R. and Stafford, J. M. and Pourcain, B. S. and Timpson, N. J. and Salo, P. and Shin, S. Y. and Amin, N. and Smith, A. V. and Li, G. and Verweij, N. and Goel, A. and Ford, I. and Johnson, P. C. D. and Johnson, T. and Kapur, K. and Thorleifsson, G. and Strawbridge, R. J. and Rasmussen-Torvik, L. J. and Esko, T. and Mihailov, E. and Fall, T. and Fraser, R. M. and Mahajan, A. and Kanoni, S. and Giedraitis, V. and Kleber, M. E. and Silbernagel, G. and Meyer, J. and M{\"u}ller-Nurasyid, M. and Ganna, A. and Sarin, A. P. and Yengo, L. and Shungin, D. and Luan, J. and Horikoshi, M. and An, P. and Sanna, S. and Boettcher, Y. and Rayner, N. W. and Nolte, I. M. and Zemunik, T. and Iperen, E. V. and Kovacs, P. and Hastie, N. D. and Wild, S. H. and McLachlan, S. and Campbell, S. and Polasek, O. and Carlson, O. and Egan, J. and Kiess, W. and Willemsen, G. and Kuusisto, J. and Laakso, M. and Dimitriou, M. and Hicks, A. A. and Rauramaa, R. and Bandinelli, S. and Thorand, B. and Liu, Y. and Miljkovic, I. and Lind, L. and Doney, A. and Perola, M. and Hingorani, A. and Kivimaki, M. and Kumari, M. and Bennett, A. J. and Groves, C. J. and Herder, C. and Koistinen, H. A. and Kinnunen, L. and Faire, U. and Bakker, S. J. L. and Uusitupa, M. and Palmer, C. N. A. and Jukema, J. W. and Sattar, N. and Pouta, A. and Snieder, H. and Boerwinkle, E. and Pankow, J. S. and Magnusson, P. K. and Krus, U. and Scapoli, C. and de Geus, E. J. C. N. and Bl{\"u}her, M. and Wolffenbuttel, B. H. R. and Province, M. A. and Abecasis, G. R. and Meigs, J. B. and Hovingh, G. K. and Lindstr{\"o}m, J. and Wilson, J. F. and Wright, A. F. and Dedoussis, G. V. and Bornstein, S. R. and Schwarz, P. E. H. and Tonjes, A. and Winkelmann, B. R. and Boehm, B. O. and M{\"a}rz, W. and Metspalu, A. and Price, J. F. and Deloukas, P. and K{\"o}rner, A. and Lakka, T. A. and Keinanen-Kiukaanniemi, S. M. and Saaristo, T. E. and Bergman, R. N. and Tuomilehto, J. and Wareham, N. J. and Langenberg, C. and M{\"a}nnist{\"o}, S. and Franks, P. W. and Hayward, C. and Vitart, V. and Kaprio, J. and Visvikis-Siest, S. and Balkau, B. and Altshuler, D. and Rudan, I. and Stumvoll, M. and Campbell, H. and van Duijn, C. M. and Gieger, C. and Illig, T. and Ferrucci, L. and Pedersen, N. L. and Pramstaller, P. P. and Boehnke, M. and Frayling, T. M. and Shuldiner, A. R. and Peyser, P. A. and Kardia, S. L. R. and Palmer, L. J. and Penninx, B. W. and Meneton, P. and Harris, T. B. and Navis, G. and Harst, P. V. and Smith, G. D. and Forouhi, N. G. and Loos, R. J. F. and Salomaa, V. and Soranzo, N. and Boomsma, D. I. and Groop, L. and Tuomi, T. and Hofman, A. and Munroe, P. B. and Gudnason, V. and Siscovick, D. S. and Watkins, H. and Lecoeur, C. and Vollenweider, P. and Franco-Cereceda, A. and Eriksson, P. and Jarvelin, M. R. and Stefansson, K. and Hamsten, A. and Nicholson, G. and Karpe, F. and Dermitzakis, E. T. and Lindgren, C. M. and McCarthy, M. I. and Froguel, P. and Kaakinen, M. A. and Lyssenko, V. and Watanabe, R. M. and Ingelsson, E. and Florez, J. C. and Dupuis, J. and Barroso, I. and Morris, A. P. and Prokopenko, I.}
}
@article {8772,
	title = {{The trans-ancestral genomic architecture of glycemic traits},
	journal = {Nat Genet},
	volume = {53},
	year = {2021},
	month = {06},
	pages = {840{\textendash}860},
	abstract = {10.1038/s41588-021-00852-9Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on individuals of European ancestry. Here we aggregated genome-wide association studies comprising up to 281,416 individuals without diabetes (30\% non-European ancestry) for whom fasting glucose, 2-h glucose after an oral glucose challenge, glycated hemoglobin and fasting insulin data were available. Trans-ancestry and single-ancestry meta-analyses identified 242 loci (99 novel; P < 5 {\texttimes} 10-8), 80\% of which had no significant evidence of between-ancestry heterogeneity. Analyses restricted to individuals of European ancestry with equivalent sample size would have led to 24 fewer new loci. Compared with single-ancestry analyses, equivalent-sized trans-ancestry fine-mapping reduced the number of estimated variants in 99\% credible sets by a median of 37.5\%. Genomic-feature, gene-expression and gene-set analyses revealed distinct biological signatures for each trait, highlighting different underlying biological pathways. Our results increase our understanding of diabetes pathophysiology by using trans-ancestry studies for improved power and resolution.},
	author = {Chen, J. and Spracklen, C. N. and Marenne, G. and Varshney, A. and Corbin, L. J. and Luan, J. and Willems, S. M. and Wu, Y. and Zhang, X. and Horikoshi, M. and Boutin, T. S. and M{\"a}gi, R. and Waage, J. and Li-Gao, R. and Chan, K. H. K. and Yao, J. and Anasanti, M. D. and Chu, A. Y. and Claringbould, A. and Heikkinen, J. and Hong, J. and Hottenga, J. J. and Huo, S. and Kaakinen, M. A. and Louie, T. and M{\"a}rz, W. and Moreno-Macias, H. and Ndungu, A. and Nelson, S. C. and Nolte, I. M. and North, K. E. and Raulerson, C. K. and Ray, D. and Rohde, R. and Rybin, D. and Schurmann, C. and Sim, X. and Southam, L. and Stewart, I. D. and Wang, C. A. and Wang, Y. and Wu, P. and Zhang, W. and Ahluwalia, T. S. and Appel, E. V. R. and Bielak, L. F. and Brody, J. A. and Burtt, N. P. and Cabrera, C. P. and Cade, B. E. and Chai, J. F. and Chai, X. and Chang, L. C. and Chen, C. H. and Chen, B. H. and Chitrala, K. N. and Chiu, Y. F. and de Haan, H. G. and Delgado, G. E. and Demirkan, A. and Duan, Q. and Engmann, J. and Fatumo, S. A. and Gay{\'a}n, J. and Giulianini, F. and Gong, J. H. and Gustafsson, S. and Hai, Y. and Hartwig, F. P. and He, J. and Heianza, Y. and Huang, T. and Huerta-Chagoya, A. and Hwang, M. Y. and Jensen, R. A. and Kawaguchi, T. and Kentistou, K. A. and Kim, Y. J. and Kleber, M. E. and Kooner, I. K. and Lai, S. and Lange, L. A. and Langefeld, C. D. and Lauzon, M. and Li, M. and Ligthart, S. and Liu, J. and Loh, M. and Long, J. and Lyssenko, V. and Mangino, M. and Marzi, C. and Montasser, M. E. and Nag, A. and Nakatochi, M. and Noce, D. and Noordam, R. and Pistis, G. and Preuss, M. and Raffield, L. and Rasmussen-Torvik, L. J. and Rich, S. S. and Robertson, N. R. and Rueedi, R. and Ryan, K. and Sanna, S. and Saxena, R. and Schraut, K. E. and Sennblad, B. and Setoh, K. and Smith, A. V. and Spars{\o}, T. and Strawbridge, R. J. and Takeuchi, F. and Tan, J. and Trompet, S. and van den Akker, E. and van der Most, P. J. and Verweij, N. and Vogel, M. and Wang, H. and Wang, C. and Wang, N. and Warren, H. R. and Wen, W. and Wilsgaard, T. and Wong, A. and Wood, A. R. and Xie, T. and Zafarmand, M. H. and Zhao, J. H. and Zhao, W. and Amin, N. and Arzumanyan, Z. and Astrup, A. and Bakker, S. J. L. and Baldassarre, D. and Beekman, M. and Bergman, R. N. and Bertoni, A. and Bl{\"u}her, M. and Bonnycastle, L. L. and Bornstein, S. R. and Bowden, D. W. and Cai, Q. and Campbell, A. and Campbell, H. and Chang, Y. C. and de Geus, E. J. C. and Dehghan, A. and Du, S. and Eiriksdottir, G. and Farmaki, A. E. and Fr{\r a}nberg, M. and Fuchsberger, C. and Gao, Y. and Gjesing, A. P. and Goel, A. and Han, S. and Hartman, C. A. and Herder, C. and Hicks, A. A. and Hsieh, C. H. and Hsueh, W. A. and Ichihara, S. and Igase, M. and Ikram, M. A. and Johnson, W. C. and J{\o}rgensen, M. E. and Joshi, P. K. and Kalyani, R. R. and Kandeel, F. R. and Katsuya, T. and Khor, C. C. and Kiess, W. and Kolcic, I. and Kuulasmaa, T. and Kuusisto, J. and L{\"a}ll, K. and Lam, K. and Lawlor, D. A. and Lee, N. R. and Lemaitre, R. N. and Li, H. and Lin, S. Y. and Lindstr{\"o}m, J. and Linneberg, A. and Liu, J. and Lorenzo, C. and Matsubara, T. and Matsuda, F. and Mingrone, G. and Mooijaart, S. and Moon, S. and Nabika, T. and Nadkarni, G. N. and Nadler, J. L. and Nelis, M. and Neville, M. J. and Norris, J. M. and Ohyagi, Y. and Peters, A. and Peyser, P. A. and Polasek, O. and Qi, Q. and Raven, D. and Reilly, D. F. and Reiner, A. and Rivideneira, F. and Roll, K. and Rudan, I. and Sabanayagam, C. and Sandow, K. and Sattar, N. and Sch{\"u}rmann, A. and Shi, J. and Stringham, H. M. and Taylor, K. D. and Teslovich, T. M. and Thuesen, B. and Timmers, P. R. H. J. and Tremoli, E. and Tsai, M. Y. and Uitterlinden, A. and van Dam, R. M. and van Heemst, D. and van Hylckama Vlieg, A. and Van Vliet-Ostaptchouk, J. 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}
@article {8979,
	title = {{Gene Set Enrichment Analsyes Identify Pathways Involved in Genetic Risk for Diabetic Retinopathy},
	journal = {Am J Ophthalmol},
	volume = {233},
	year = {2022},
	month = {01},
	pages = {111{\textendash}123},
	abstract = {{To identify functionally related genes associated with diabetic retinopathy (DR) risk using gene set enrichment analyses applied to genome-wide association study meta-analyses.\ .05.\ .05) in the other method. These pathways were regulation of the lipid catabolic process (2-fold enrichment},
	author = {Sobrin, L. and Susarla, G. and Stanwyck, L. and Rouhana, J. M. and Li, A. and Pollack, S. and Igo, R. P. and Jensen, R. A. and Li, X. and Ng, M. C. Y. and Smith, A. V. and Kuo, J. Z. and Taylor, K. D. and Freedman, B. I. and Bowden, D. W. and Penman, A. and Chen, C. J. and Craig, J. E. and Adler, S. G. and Chew, E. Y. and Cotch, M. F. and Yaspan, B. and Mitchell, P. and Wang, J. J. and Klein, B. E. K. and Wong, T. Y. and Rotter, J. I. and Burdon, K. P. and Iyengar, S. K. and Segr{\`e}, A. V.}
}
@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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}
