@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 {8557,
	title = {{Genetic Risk Prediction of Atrial Fibrillation},
	journal = {Circulation},
	volume = {135},
	year = {2017},
	month = {Apr},
	pages = {1311{\textendash}1320},
	abstract = {Atrial fibrillation (AF) has a substantial genetic basis. Identification of individuals at greatest AF risk could minimize the incidence of cardioembolic stroke.\ To determine whether genetic data can stratify risk for development of AF, we examined associations between AF genetic risk scores and incident AF in 5 prospective studies comprising 18 919 individuals of European ancestry. We examined associations between AF genetic risk scores and ischemic stroke in a separate study of 509 ischemic stroke cases (202 cardioembolic [40\%]) and 3028 referents. Scores were based on 11 to 719 common variants ({\^a}{\textperthousand}{\textyen}5\%) associated with AF at P values ranging from <1{\~A}{\textemdash}10-3 to <1{\~A}{\textemdash}10-8 in a prior independent genetic association study.\ Incident AF occurred in 1032 individuals (5.5\%). AF genetic risk scores were associated with new-onset AF after adjustment for clinical risk factors. The pooled hazard ratio for incident AF for the highest versus lowest quartile of genetic risk scores ranged from 1.28 (719 variants; 95\% confidence interval, 1.13-1.46; P=1.5{\~A}{\textemdash}10-4) to 1.67 (25 variants; 95\% confidence interval, 1.47-1.90; P=9.3{\~A}{\textemdash}10-15). Discrimination of combined clinical and genetic risk scores varied across studies and scores (maximum C statistic, 0.629-0.811; maximum {\^I}{\textquotedblright}C statistic from clinical score alone, 0.009-0.017). AF genetic risk was associated with stroke in age- and sex-adjusted models. For example, individuals in the highest versus lowest quartile of a 127-variant score had a 2.49-fold increased odds of cardioembolic stroke (95\% confidence interval, 1.39-4.58; P=2.7{\~A}{\textemdash}10-3). The effect persisted after the exclusion of individuals (n=70) with known AF (odds ratio, 2.25; 95\% confidence interval, 1.20-4.40; P=0.01).\ Comprehensive AF genetic risk scores were associated with incident AF beyond associations for clinical AF risk factors but offered small improvements in discrimination. AF genetic risk was also associated with cardioembolic stroke in age- and sex-adjusted analyses. Efforts are warranted to determine whether AF genetic risk may improve identification of subclinical AF or help distinguish between stroke mechanisms.},
	author = {Lubitz, S. A. and Yin, X. and Lin, H. J. and Kolek, M. and Smith, J. G. and Trompet, S. and Rienstra, M. and Rost, N. S. and Teixeira, P. L. and Almgren, P. and Anderson, C. D. and Chen, L. Y. and Engstr?m, G. and Ford, I. and Furie, K. L. and Guo, X. and Larson, M. G. and Lunetta, K. L. and Macfarlane, P. W. and Psaty, B. M. and Soliman, E. Z. and Sotoodehnia, N. and Stott, D. J. and Taylor, K. D. and Weng, L. C. and Yao, J. and Geelhoed, B. and Verweij, N. and Siland, J. E. and Kathiresan, S. and Roselli, C. and Roden, D. M. and van der Harst, P. and Darbar, D. and Jukema, J. W. and Melander, O. and Rosand, J. and Rotter, J. I. and Heckbert, S. R. and Ellinor, P. T. and Alonso, A. and Benjamin, E. J.}
}
@article {8560,
	title = {{Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk},
	journal = {Nat Genet},
	volume = {49},
	year = {2017},
	month = {Mar},
	pages = {403{\textendash}415},
	abstract = {Elevated blood pressure is the leading heritable risk factor for cardiovascular disease worldwide. We report genetic association of blood pressure (systolic, diastolic, pulse pressure) among UK Biobank participants of European ancestry with independent replication in other cohorts, and robust validation of 107 independent loci. We also identify new independent variants at 11 previously reported blood pressure loci. In combination with results from a range of in silico functional analyses and wet bench experiments, our findings highlight new biological pathways for blood pressure regulation enriched for genes expressed in vascular tissues and identify potential therapeutic targets for hypertension. Results from genetic risk score models raise the possibility of a precision medicine approach through early lifestyle intervention to offset the impact of blood pressure-raising genetic variants on future cardiovascular disease risk.},
	author = {Warren, H. R. and Evangelou, E. and Cabrera, C. P. and Gao, H. and Ren, M. and Mifsud, B. and Ntalla, I. and Surendran, P. and Liu, C. and Cook, J. P. and Kraja, A. T. and Drenos, F. and Loh, M. and Verweij, N. and Marten, J. and Karaman, I. and Lepe, M. P. and O{\textquoteright}Reilly, P. F. and Knight, J. and Snieder, H. and Kato, N. and He, J. and Tai, E. S. and Said, M. A. and Porteous, D. and Alver, M. and Poulter, N. and Farrall, M. and Gansevoort, R. T. and Padmanabhan, S. and M?gi, R. and Stanton, A. and Connell, J. and Bakker, S. J. and Metspalu, A. and Shields, D. C. and Thom, S. and Brown, M. and Sever, P. and Esko, T. and Hayward, C. and van der Harst, P. and Saleheen, D. and Chowdhury, R. and Chambers, J. C. and Chasman, D. I. and Chakravarti, A. and Newton-Cheh, C. and Lindgren, C. M. and Levy, D. and Kooner, J. S. and Keavney, B. and Tomaszewski, M. and Samani, N. J. and Howson, J. M. and Tobin, M. D. and Munroe, P. B. and Ehret, G. B. and Wain, L. V. and V?lker, U. and Vollenweider, P. and Wild, S. and Willemsen, G. and Wright, A. F. and Yao, J. and Th?riault, S. and Conen, D. and John, A. and Sever, P. and Debette, S. and Mook-Kanamori, D. O. and Zeggini, E. and Spector, T. D. and van der Harst, P. and Palmer, C. N. and Vergnaud, A. C. and Loos, R. J. and Polasek, O. and Starr, J. M. and Girotto, G. and Hayward, C. and Kooner, J. S. and Lindgren, C. M. and Vitart, V. and Samani, N. J. and Tuomilehto, J. and Gyllensten, U. and Knekt, P. and Deary, I. J. and Ciullo, M. and Elosua, R. and Keavney, B. D. and Hicks, A. A. and Scott, R. A. and Gasparini, P. and Laan, M. and Liu, Y. and Watkins, H. and Hartman, C. A. and Salomaa, V. and Toniolo, D. and Perola, M. and Wilson, J. F. and Schmidt, H. and Zhao, J. H. and Lehtim?ki, T. and van Duijn, C. M. and Gudnason, V. and Psaty, B. M. and Peters, A. and Rettig, R. and James, A. and Jukema, J. W. and Strachan, D. P. and Palmas, W. and Metspalu, A. and Ingelsson, E. and Boomsma, D. I. and Franco, O. H. and Bochud, M. and Newton-Cheh, C. and Munroe, P. B. and Elliott, P. and Chasman, D. I. and Chakravarti, A. and Knight, J. and Morris, A. P. and Levy, D. and Tobin, M. D. and Snieder, H. and Caulfield, M. J. and Ehret, G. B. and Barnes, M. R. and Tzoulaki, I. and Caulfield, M. J. and Elliott, P.}
}
@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 {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 {8518,
	title = {{Genome-Wide Association Study of Apparent Treatment-Resistant Hypertension in the CHARGE Consortium: The CHARGE Pharmacogenetics Working Group},
	journal = {Am J Hypertens},
	volume = {32},
	year = {2019},
	month = {11},
	pages = {1146{\textendash}1153},
	abstract = {{Only a handful of genetic discovery efforts in apparent treatment-resistant hypertension (aTRH) have been described.\ We conducted a case-control genome-wide association study of aTRH among persons treated for hypertension, using data from 10 cohorts of European ancestry (EA) and 5 cohorts of African ancestry (AA). Cases were treated with 3 different antihypertensive medication classes and had blood pressure (BP) above goal (systolic BP {\^a}{\textperthousand}{\textyen} 140 mm Hg and/or diastolic BP {\^a}{\textperthousand}{\textyen} 90 mm Hg) or 4 or more medication classes regardless of BP control (nEA = 931},
	author = {Irvin, M. R. and Sitlani, C. M. and Floyd, J. S. and Psaty, B. M. and Bis, J. C. and Wiggins, K. L. and Whitsel, E. A. and Sturmer, T. and Stewart, J. and Raffield, L. and Sun, F. and Liu, C. T. and Xu, H. and Cupples, A. L. and Tanner, R. M. and Rossing, P. and Smith, A. and Zilh?o, N. R. and Launer, L. J. and Noordam, R. and Rotter, J. I. and Yao, J. and Li, X. and Guo, X. and Limdi, N. and Sundaresan, A. and Lange, L. and Correa, A. and Stott, D. J. and Ford, I. and Jukema, J. W. and Gudnason, V. and Mook-Kanamori, D. O. and Trompet, S. and Palmas, W. and Warren, H. R. and Hellwege, J. N. and Giri, A. and O{\textquoteright}Donnell, C. and Hung, A. M. and Edwards, T. L. and Ahluwalia, T. S. and Arnett, D. K. and Avery, C. L.}
}
@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 {8484,
	title = {{Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults},
	journal = {Nat Commun},
	volume = {11},
	year = {2020},
	month = {09},
	pages = {4796},
	abstract = {Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprises 22,824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank. We identify genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/{\^I}{\texttwosuperior}-catenin, TGF-{\^I}{\texttwosuperior} and sonic hedgehog pathways. There is enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging.},
	author = {Hofer, E. and Roshchupkin, G. V. and Adams, H. H. H. and Knol, M. J. and Lin, H. and Li, S. and Zare, H. and Ahmad, S. and Armstrong, N. J. and Satizabal, C. L. and Bernard, M. and Bis, J. C. and Gillespie, N. A. and Luciano, M. and Mishra, A. and Scholz, M. and Teumer, A. and Xia, R. and Jian, X. and Mosley, T. H. and Saba, Y. and Pirpamer, L. and Seiler, S. and Becker, J. T. and Carmichael, O. and Rotter, J. I. and Psaty, B. M. and Lopez, O. L. and Amin, N. and van der Lee, S. J. and Yang, Q. and Himali, J. J. and Maillard, P. and Beiser, A. S. and DeCarli, C. and Karama, S. and Lewis, L. and Harris, M. and Bastin, M. E. and Deary, I. J. and Veronica Witte, A. and Beyer, F. and Loeffler, M. and Mather, K. A. and Schofield, P. R. and Thalamuthu, A. and Kwok, J. B. and Wright, M. J. and Ames, D. and Trollor, J. and Jiang, J. and Brodaty, H. and Wen, W. and Vernooij, M. W. and Hofman, A. and Uitterlinden, A. G. and Niessen, W. J. and Wittfeld, K. and B?low, R. and V?lker, U. and Pausova, Z. and Bruce Pike, G. and Maingault, S. and Crivello, F. and Tzourio, C. and Amouyel, P. and Mazoyer, B. and Neale, M. C. and Franz, C. E. and Lyons, M. J. and Panizzon, M. S. and Andreassen, O. A. and Dale, A. M. and Logue, M. and Grasby, K. L. and Jahanshad, N. and Painter, J. N. and Colodro-Conde, L. and Bralten, J. and Hibar, D. P. and Lind, P. A. and Pizzagalli, F. and Stein, J. L. and Thompson, P. M. and Medland, S. E. and Sachdev, P. S. and Kremen, W. S. and Wardlaw, J. M. and Villringer, A. and van Duijn, C. M. and Grabe, H. J. and Longstreth, W. T. and Fornage, M. and Paus, T. and Debette, S. and Arfan Ikram, M. and Schmidt, H. and Schmidt, R. and Seshadri, S. and Grasby, K. L. and Jahanshad, N. and Painter, J. N. and Colodro-Conde, L. and Bralten, J. and Hibar, D. P. and Lind, P. A. and Pizzagalli, F. and Ching, C. R. K. and McMahon, M. A. B. and Shatokhina, N. and Zsembik, L. C. P. and Agartz, I. and Alhusaini, S. and Almeida, M. A. A. and Aln?s, D. and Amlien, I. K. and Andersson, M. and Ard, T. and Armstrong, N. J. and Ashley-Koch, A. and Bernard, M. and Brouwer, R. M. and Buimer, E. E. L. and B?low, R. and B?rger, C. and Cannon, D. M. and Chakravarty, M. and Chen, Q. and Cheung, J. W. and Couvy-Duchesne, B. and Dale, A. M. and Dalvie, S. and de Araujo, T. K. and de Zubicaray, G. I. and de Zwarte, S. M. C. and den Braber, A. and Doan, N. T. and Dohm, K. and Ehrlich, S. and Engelbrecht, H. R. and Erk, S. and Fan, C. C. and Fedko, I. O. and Foley, S. F. and Ford, J. M. and Fukunaga, M. and Garrett, M. E. and Ge, T. and Giddaluru, S. and Goldman, A. L. and Groenewold, N. A. and Grotegerd, D. and Gurholt, T. P. and Gutman, B. A. and Hansell, N. K. and Harris, M. A. and Harrison, M. B. and Haswell, C. C. and Hauser, M. and Herms, S. and Heslenfeld, D. J. and Ho, N. F. and Hoehn, D. and Hoffmann, P. and Holleran, L. and Hoogman, M. and Hottenga, J. J. and Ikeda, M. and Janowitz, D. and Jansen, I. E. and Jia, T. and Jockwitz, C. and Kanai, R. and Karama, S. and Kasperaviciute, D. and Kaufmann, T. and Kelly, S. and Kikuchi, M. and Klein, M. and Knapp, M. and Knodt, A. R. and Kr?mer, B. and Lam, M. and Lancaster, T. M. and Lee, P. H. and Lett, T. A. and Lewis, L. B. and Lopes-Cendes, I. and Luciano, M. and Macciardi, F. and Marquand, A. F. and Mathias, S. R. and Melzer, T. R. and Milaneschi, Y. and Mirza-Schreiber, N. and Moreira, J. C. V. and M?hleisen, T. W. and M?ller-Myhsok, B. and Najt, P. and Nakahara, S. and Nho, K. and Olde Loohuis, L. M. and Orfanos, D. P. and Pearson, J. F. and Pitcher, T. L. and P?tz, B. and Ragothaman, A. and Rashid, F. M. and Redlich, R. and Reinbold, C. S. and Repple, J. and Richard, G. and Riedel, B. C. and Risacher, S. L. and Rocha, C. S. and Mota, N. R. and Salminen, L. and Saremi, A. and Saykin, A. J. and Schlag, F. and Schmaal, L. and Schofield, P. R. and Secolin, R. and Shapland, C. Y. and Shen, L. and Shin, J. and Shumskaya, E. and S?nderby, I. E. and Sprooten, E. and Strike, L. T. and Tansey, K. E. and Teumer, A. and Thalamuthu, A. and Thomopoulos, S. I. and Tordesillas-Guti?rrez, D. and Turner, J. A. and Uhlmann, A. and Vallerga, C. L. and van der Meer, D. and van Donkelaar, M. M. J. and van Eijk, L. and van Erp, T. G. M. and van Haren, N. E. M. and van Rooij, D. and van Tol, M. J. and Veldink, J. H. and Verhoef, E. and Walton, E. and Wang, M. and Wang, Y. and Wardlaw, J. M. and Wen, W. and Westlye, L. T. and Whelan, C. D. and Witt, S. H. and Wittfeld, K. and Wolf, C. and Wolfers, T. and Yasuda, C. L. and Zaremba, D. and Zhang, Z. and Zhu, A. H. and Zwiers, M. P. and Artiges, E. and Assareh, A. A. and Ayesa-Arriola, R. and Belger, A. and Brandt, C. L. and Brown, G. G. and Cichon, S. and Curran, J. E. and Davies, G. E. and Degenhardt, F. and Dietsche, B. and Djurovic, S. and Doherty, C. P. and Espiritu, R. and Garijo, D. and Gil, Y. and Gowland, P. A. and Green, R. C. and H?usler, A. N. and Heindel, W. and Ho, B. C. and Hoffmann, W. U. and Holsboer, F. and Homuth, G. and Hosten, N. and Jack, C. R. and Jang, M. and Jansen, A. and Kolsk?r, K. and Koops, S. and Krug, A. and Lim, K. O. and Luykx, J. J. and Mathalon, D. H. and Mather, K. A. and Mattay, V. S. and Matthews, S. and Son, J. M. V. and McEwen, S. C. and Melle, I. and Morris, D. W. and Mueller, B. A. and Nauck, M. and Nordvik, J. E. and N?then, M. M. and O{\textquoteright}Leary, D. S. and Opel, N. and Martinot, M. -P. and Pike, G. B. and Preda, A. and Quinlan, E. B. and Ratnakar, V. and Reppermund, S. and Steen, V. M. and Torres, F. R. and Veltman, D. J. and Voyvodic, J. T. and Whelan, R. and White, T. and Yamamori, H. and Alvim, M. K. M. and Ames, D. and Anderson, T. J. and Andreassen, O. A. and Arias-Vasquez, A. and Bastin, M. E. and Baune, B. T. and Blangero, J. and Boomsma, D. I. and Brodaty, H. and Brunner, H. G. and Buckner, R. L. and Buitelaar, J. K. and Bustillo, J. R. and Cahn, W. and Calhoun, V. and Caseras, X. and Caspers, S. and Cavalleri, G. L. and Cendes, F. and Corvin, A. and Crespo-Facorro, B. and Dalrymple-Alford, J. C. and Dannlowski, U. and de Geus, E. J. C. and Deary, I. J. and Delanty, N. and Depondt, C. and Desrivi?res, S. and Donohoe, G. and Espeseth, T. and Fern?ndez, G. and Fisher, S. E. and Flor, H. and Forstner, A. J. and Francks, C. and Franke, B. and Glahn, D. C. and Gollub, R. L. and Grabe, H. J. and Gruber, O. and H?berg, A. K. and Hariri, A. R. and Hartman, C. A. and Hashimoto, R. and Heinz, A. and Hillegers, M. H. J. and Hoekstra, P. J. and Holmes, A. J. and Hong, L. E. and Hopkins, W. D. and Hulshoff Pol, H. E. and Jernigan, T. L. and J?nsson, E. G. and Kahn, R. S. and Kennedy, M. A. and Kircher, T. T. J. and Kochunov, P. and Kwok, J. B. J. and Hellard, S. L. and Martin, N. G. and Martinot, J. - and McDonald, C. and McMahon, K. L. and Meyer-Lindenberg, A. and Morey, R. A. and Nyberg, L. and Oosterlaan, J. and Ophoff, R. A. and Paus, T. and Pausova, Z. and Penninx, B. W. J. H. and Polderman, T. J. C. and Posthuma, D. and Rietschel, M. and Roffman, J. L. and Rowland, L. M. and Sachdev, P. S. and S?mann, P. G. and Schumann, G. and Sim, K. and Sisodiya, S. M. and Smoller, J. W. and Sommer, I. E. and Pourcain, B. S. and Stein, D. J. and Toga, A. W. and Trollor, J. N. and Van der Wee, N. J. A. and van {\textquoteright}t Ent, D. and V?lzke, H. and Walter, H. and Weber, B. and Weinberger, D. R. and Wright, M. J. and Zhou, J. and Stein, J. L. and Thompson, P. M. and Medland, S. E.}
}
@article {8452,
	title = {{Genetic Determinants of Electrocardiographic P-wave Duration and Relation to Atrial Fibrillation},
	journal = {Circ Genom Precis Med},
	year = {2020},
	month = {Aug},
	abstract = {Background - The P-wave duration (PWD) is an electrocardiographic (ECG) measurement that represents cardiac conduction in the atria. Shortened or prolonged PWD is associated with atrial fibrillation (AF). We used exome chip data to examine the associations between common and rare variants with PWD. Methods - Fifteen studies comprising 64,440 individuals (56,943 European, 5,681 African, 1,186 Hispanic, 630 Asian), and  230,000 variants were used to examine associations with maximum PWD across the 12-lead ECG. Meta-analyses summarized association results for common variants; gene-based burden and SKAT tests examined low-frequency variant-PWD associations. Additionally, we examined the associations between PWD loci and AF using previous AF GWAS. Results - We identified 21 common and low-frequency genetic loci (14 novel) associated with maximum PWD, including several AF loci (TTN, CAND2, SCN10A, PITX2, CAV1, SYNPO2L, SOX5, TBX5, MYH6, RPL3L). The top variants at known sarcomere genes (TTN, MYH6) were associated with longer PWD and increased AF risk. However, top variants at other loci (e.g., PITX2 and SCN10A) were associated with longer PWD but lower AF risk. Conclusions - Our results highlight multiple novel genetic loci associated with PWD, and underscore the shared mechanisms of atrial conduction and AF. Prolonged PWD may be an endophenotype for several different genetic mechanisms of AF.},
	author = {Weng, L. C. and Hall, A. W. and Choi, S. H. and Jurgens, S. J. and Haessler, J. and Bihlmeyer, N. A. and Grarup, N. and Lin, H. and Teumer, A. and Li-Gao, R. and Yao, J. and Guo, X. and Brody, J. A. and M?ller-Nurasyid, M. and Schramm, K. and Verweij, N. and van den Berg, M. E. and van Setten, J. and Isaacs, A. and Ram?rez, J. and Warren, H. R. and Padmanabhan, S. and Kors, J. A. and de Boer, R. A. and van der Meer, P. and Sinner, M. F. and Waldenberger, M. and Psaty, B. M. and Taylor, K. D. and V?lker, U. and Kanters, J. K. and Li, M. and Alonso, A. and Perez, M. V. and Vaartjes, I. and Bots, M. L. and Huang, P. L. and Heckbert, S. R. and Lin, H. J. and Kornej, J. and Munroe, P. B. and van Duijn, C. M. and Asselbergs, F. W. and Stricker, B. H. and van der Harst, P. and K??b, S. and Peters, A. and Sotoodehnia, N. and Rotter, J. I. and Mook-Kanamori, D. O. and D?rr, M. and Felix, S. B. and Linneberg, A. and Hansen, T. and Arking, D. E. and Kooperberg, C. and Benjamin, E. J. and Lunetta, K. L. and Ellinor, P. T. and Lubitz, S. A.}
}
@article {8289,
	title = {{Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure},
	journal = {Nat Commun},
	volume = {11},
	year = {2020},
	month = {01},
	pages = {163},
	abstract = {Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies.},
	author = {Shah, S. and Henry, A. and Roselli, C. and Lin, H. and Sveinbj?rnsson, G. and Fatemifar, G. and Hedman, ?. K. and Wilk, J. B. and Morley, M. P. and Chaffin, M. D. and Helgadottir, A. and Verweij, N. and Dehghan, A. and Almgren, P. and Andersson, C. and Aragam, K. G. and ?rnl?v, J. and Backman, J. D. and Biggs, M. L. and Bloom, H. L. and Brandimarto, J. and Brown, M. R. and Buckbinder, L. and Carey, D. J. and Chasman, D. I. and Chen, X. and Chen, X. and Chung, J. and Chutkow, W. and Cook, J. P. and Delgado, G. E. and Denaxas, S. and Doney, A. S. and D?rr, M. and Dudley, S. C. and Dunn, M. E. and Engstr?m, G. and Esko, T. and Felix, S. B. and Finan, C. and Ford, I. and Ghanbari, M. and Ghasemi, S. and Giedraitis, V. and Giulianini, F. and Gottdiener, J. S. and Gross, S. and Gu?bjartsson, D. F. and Gutmann, R. and Haggerty, C. M. and van der Harst, P. and Hyde, C. L. and Ingelsson, E. and Jukema, J. W. and Kavousi, M. and Khaw, K. T. and Kleber, M. E. and K?ber, L. and Koekemoer, A. and Langenberg, C. and Lind, L. and Lindgren, C. M. and London, B. and Lotta, L. A. and Lovering, R. C. and Luan, J. and Magnusson, P. and Mahajan, A. and Margulies, K. B. and M?rz, W. and Melander, O. and Mordi, I. R. and Morgan, T. and Morris, A. D. and Morris, A. P. and Morrison, A. C. and Nagle, M. W. and Nelson, C. P. and Niessner, A. and Niiranen, T. and O{\textquoteright}Donoghue, M. L. and Owens, A. T. and Palmer, C. N. A. and Parry, H. M. and Perola, M. and Portilla-Fernandez, E. and Psaty, B. M. and Rice, K. M. and Ridker, P. M. and Romaine, S. P. R. and Rotter, J. I. and Salo, P. and Salomaa, V. and van Setten, J. and Shalaby, A. A. and Smelser, D. T. and Smith, N. L. and Stender, S. and Stott, D. J. and Svensson, P. and Tammesoo, M. L. and Taylor, K. D. and Teder-Laving, M. and Teumer, A. and Thorgeirsson, G. and Thorsteinsdottir, U. and Torp-Pedersen, C. and Trompet, S. and Tyl, B. and Uitterlinden, A. G. and Veluchamy, A. and V?lker, U. and Voors, A. A. and Wang, X. and Wareham, N. J. and Waterworth, D. and Weeke, P. E. and Weiss, R. and Wiggins, K. L. and Xing, H. and Yerges-Armstrong, L. M. and Yu, B. and Zannad, F. and Zhao, J. H. and Hemingway, H. and Samani, N. J. and McMurray, J. J. V. and Yang, J. and Visscher, P. M. and Newton-Cheh, C. and Malarstig, A. and Holm, H. and Lubitz, S. A. and Sattar, N. and Holmes, M. V. and Cappola, T. P. and Asselbergs, F. W. and Hingorani, A. D. and Kuchenbaecker, K. and Ellinor, P. T. and Lang, C. C. and Stefansson, K. and Smith, J. G. and Vasan, R. S. and Swerdlow, D. I. and Lumbers, R. T. and Abecasis, G. and Backman, J. and Bai, X. and Balasubramanian, S. and Banerjee, N. and Baras, A. and Barnard, L. and Beechert, C. and Blumenfeld, A. and Cantor, M. and Chai, Y. and Chung, J. and Coppola, G. and Damask, A. and Dewey, F. and Economides, A. and Eom, G. and Forsythe, C. and Fuller, E. D. and Gu, Z. and Gurski, L. and Guzzardo, P. M. and Habegger, L. and Hahn, Y. and Hawes, A. and van Hout, C. and Jones, M. B. and Khalid, S. and Lattari, M. and Li, A. and Lin, N. and Liu, D. and Lopez, A. and Manoochehri, K. and Marchini, J. and Marcketta, A. and Maxwell, E. K. and McCarthy, S. and Mitnaul, L. J. and O{\textquoteright}Dushlaine, C. and Overton, J. D. and Padilla, M. S. and Paulding, C. and Penn, J. and Pradhan, M. and Reid, J. G. and Schleicher, T. D. and Schurmann, C. and Shuldiner, A. and Staples, J. C. and Sun, D. and Toledo, K. and Ulloa, R. H. and Widom, L. and Wolf, S. E. and Yadav, A. and Ye, B.}
}
@article {8454,
	title = {{Genome-Wide Association Study Meta-Analysis of Stroke in 22 000 Individuals of African Descent Identifies Novel Associations With Stroke},
	journal = {Stroke},
	volume = {51},
	year = {2020},
	month = {Aug},
	pages = {2454{\textendash}2463},
	abstract = {Stroke is a complex disease with multiple genetic and environmental risk factors. Blacks endure a nearly 2-fold greater risk of stroke and are 2{\~A}{\textemdash} to 3{\~A}{\textemdash} more likely to die from stroke than European Americans.\ The COMPASS (Consortium of Minority Population Genome-Wide Association Studies of Stroke) has conducted a genome-wide association meta-analysis of stroke in >22 000 individuals of African ancestry (3734 cases, 18 317 controls) from 13 cohorts.\ In meta-analyses, we identified one single nucleotide polymorphism (rs55931441) near the HNF1A gene that reached genome-wide significance (P=4.62{\~A}{\textemdash}10-8) and an additional 29 variants with suggestive evidence of association (P<1{\~A}{\textemdash}10-6), representing 24 unique loci. For validation, a look-up analysis for a 100 kb region flanking the COMPASS single nucleotide polymorphism was performed in SiGN (Stroke Genetics Network) Europeans, SiGN Hispanics, and METASTROKE (Europeans). Using a stringent Bonferroni correction P value of 2.08{\~A}{\textemdash}10-3 (0.05/24 unique loci), we were able to validate associations at the HNF1A locus in both SiGN (P=8.18{\~A}{\textemdash}10-4) and METASTROKE (P=1.72{\~A}{\textemdash}10-3) European populations. Overall, 16 of 24 loci showed evidence for validation across multiple populations. Previous studies have reported associations between variants in the HNF1A gene and lipids, C-reactive protein, and risk of coronary artery disease and stroke. Suggestive associations with variants in the SFXN4 and TMEM108 genes represent potential novel ischemic stroke loci.\ These findings represent the most thorough investigation of genetic determinants of stroke in individuals of African descent, to date.},
	author = {Keene, K. L. and Hyacinth, H. I. and Bis, J. C. and Kittner, S. J. and Mitchell, B. D. and Cheng, Y. C. and Pare, G. and Chong, M. and O{\textquoteright}Donnell, M. and Meschia, J. F. and Chen, W. M. and Sale, M. M. and Rich, S. S. and Nalls, M. A. and Zonderman, A. B. and Evans, M. K. and Wilson, J. G. and Correa, A. and Markus, H. S. and Traylor, M. and Lewis, C. M. and Carty, C. L. and Reiner, A. and Haessler, J. and Langefeld, C. D. and Gottesman, R. and Mosley, T. H. and Woo, D. and Yaffe, K. and Liu, Y. and Longstreth, W. T. and Psaty, B. M. and Kooperberg, C. and Lange, L. A. and Sacco, R. and Rundek, T. and Lee, J. M. and Cruchaga, C. and Furie, K. L. and Arnett, D. K. and Benavente, O. R. and Grewal, R. P. and Peddareddygari, L. R. and Dichgans, M. and Malik, R. and Worrall, B. B. and Fornage, M.}
}
@article {8657,
	title = {{Genome-Wide Association Study of Circulating Interleukin 6 Levels Identifies Novel Loci},
	journal = {Hum Mol Genet},
	year = {2021},
	month = {Jan},
	abstract = {Interleukin-6 (IL-6) is a multifunctional cytokine with both pro- and anti-inflammatory properties with a heritability estimate of up to 61\%. The circulating levels of IL-6 in blood have been associated with an increased risk of complex disease pathogenesis. We conducted a two-staged, discovery, and replication meta genome-wide association study (GWAS) of circulating serum IL-6 levels comprising up to 67 428 (ndiscovery = 52 654 and nreplication = 14 774) individuals of European ancestry. The inverse variance fixed-effects based discovery meta-analysis, followed by replication led to the identification of two independent loci, IL1F10/IL1RN rs6734238 on Chromosome (Chr) 2q14, (pcombined = 1.8 {\texttimes} 10-11), HLA-DRB1/DRB5 rs660895 on Chr6p21 (pcombined = 1.5 {\texttimes} 10-10) in the combined meta-analyses of all samples. We also replicated the IL6R rs4537545 locus on Chr1q21 (pcombined = 1.2 {\texttimes} 10-122). Our study identifies novel loci for circulating IL-6 levels uncovering new immunological and inflammatory pathways that may influence IL-6 pathobiology.},
	author = {Ahluwalia, T. S. and Prins, B. P. and Abdollahi, M. and Armstrong, N. J. and Aslibekyan, S. and Bain, L. and Jefferis, B. and Baumert, J. and Beekman, M. and Ben-Shlomo, Y. and Bis, J. C. and Mitchell, B. D. and de Geus, E. and Delgado, G. E. and Marek, D. and Eriksson, J. and Kajantie, E. and Kanoni, S. and Kemp, J. P. and Lu, C. and Marioni, R. E. and McLachlan, S. and Milaneschi, Y. and Nolte, I. M. and Petrelis, A. M. and Porcu, E. and Sabater-Lleal, M. and Naderi, E. and Sepp{\"a}l{\"a}, I. and Shah, T. and Singhal, G. and Standl, M. and Teumer, A. and Thalamuthu, A. and Thiering, E. and Trompet, S. and Ballantyne, C. M. and Benjamin, E. J. and Casas, J. P. and Toben, C. and Dedoussis, G. and Deelen, J. and Durda, P. and Engmann, J. and Feitosa, M. F. and Grallert, H. and Hammarstedt, A. and Harris, S. E. and Homuth, G. and Hottenga, J. J. and Jalkanen, S. and Jamshidi, Y. and Jawahar, M. C. and Jess, T. and Kivimaki, M. and Kleber, M. E. and Lahti, J. and Liu, Y. and Marques-Vidal, P. and Mellstr{\"o}m, D. and Mooijaart, S. P. and M{\"u}ller-Nurasyid, M. and Penninx, B. and Revez, J. A. and Rossing, P. and R{\"a}ikk{\"o}nen, K. and Sattar, N. and Scharnagl, H. and Sennblad, B. and Silveira, A. and Pourcain, B. S. and Timpson, N. J. and Trollor, J. and van Dongen, J. and van Heemst, D. and Visvikis-Siest, S. and Vollenweider, P. and V{\"o}lker, U. and Waldenberger, M. and Willemsen, G. and Zabaneh, D. and Morris, R. W. and Arnett, D. K. and Baune, B. T. and Boomsma, D. I. and Chang, Y. C. and Deary, I. J. and Deloukas, P. and Eriksson, J. G. and Evans, D. M. and Ferreira, M. A. and Gaunt, T. and Gudnason, V. and Hamsten, A. and Heinrich, J. and Hingorani, A. and Humphries, S. E. and Jukema, J. W. and Koeing, W. and Kumari, M. and Kutalik, Z. and Lawlor, D. A. and Lehtim{\"a}ki, T. and M{\"a}rz, W. and Mather, K. and Naitza, S. and Nauck, M. and Ohlsson, C. and Price, J. F. and Raitakari, O. and Rice, K. and Sachdev, P. S. and Slagboom, E. and S{\o}rensen, T. I. A. and Spector, T. and Stacey, D. and Stathopoulou, M. G. and Tanaka, T. and Wannamethee, S. G. and Whincup, P. and Rotter, J. I. and Dehghan, A. and Boerwinkle, E. and Psaty, B. M. and Snieder, H. and Alizadeh, B. Z.}
}
@article {8660,
	title = {{Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women},
	journal = {Nat Commun},
	volume = {12},
	year = {2021},
	month = {01},
	pages = {654},
	abstract = {Low muscle strength is an important heritable indicator of poor health linked to morbidity and mortality in older people. In a genome-wide association study meta-analysis of 256,523 Europeans aged 60 years and over from 22 cohorts we identify 15 loci associated with muscle weakness (European Working Group on Sarcopenia in Older People definition: n = 48,596 cases, 18.9\% of total), including 12 loci not implicated in previous analyses of continuous measures of grip strength. Loci include genes reportedly involved in autoimmune disease (HLA-DQA1 p = 4 {\texttimes} 10-17), arthritis (GDF5 p = 4 {\texttimes} 10-13), cell cycle control and cancer protection, regulation of transcription, and others involved in the development and maintenance of the musculoskeletal system. Using Mendelian randomization we report possible overlapping causal pathways, including diabetes susceptibility, haematological parameters, and the immune system. We conclude that muscle weakness in older adults has distinct mechanisms from continuous strength, including several pathways considered to be hallmarks of ageing.},
	author = {Jones, G. and Trajanoska, K. and Santanasto, A. J. and Stringa, N. and Kuo, C. L. and Atkins, J. L. and Lewis, J. R. and Duong, T. and Hong, S. and Biggs, M. L. and Luan, J. and Sarnowski, C. and Lunetta, K. L. and Tanaka, T. and Wojczynski, M. K. and Cvejkus, R. and Nethander, M. and Ghasemi, S. and Yang, J. and Zillikens, M. C. and Walter, S. and Sicinski, K. and Kague, E. and Ackert-Bicknell, C. L. and Arking, D. E. and Windham, B. G. and Boerwinkle, E. and Grove, M. L. and Graff, M. and Spira, D. and Demuth, I. and Van der Velde, N. and de Groot, L. C. P. G. M. and Psaty, B. M. and Odden, M. C. and Fohner, A. E. and Langenberg, C. and Wareham, N. J. and Bandinelli, S. and van Schoor, N. M. and Huisman, M. and Tan, Q. and Zmuda, J. and Mellstr{\"o}m, D. and Karlsson, M. and Bennett, D. A. and Buchman, A. S. and De Jager, P. L. and Uitterlinden, A. G. and V{\"o}lker, U. and Kocher, T. and Teumer, A. and Rodrigu{\'e}z-Ma{\~n}as, L. and Garc{\'\i}a, F. J. and Carnicero, J. A. and Herd, P. and Bertram, L. and Ohlsson, C. and Murabito, J. M. and Melzer, D. and Kuchel, G. A. and Ferrucci, L. and Karasik, D. and Rivadeneira, F. and Kiel, D. P. and Pilling, L. C.}
}
@article {8925,
	title = {{The genomics of heart failure: design and rationale of the HERMES consortium},
	journal = {ESC Heart Fail},
	year = {2021},
	month = {Sep},
	abstract = {The HERMES (HEart failure Molecular Epidemiology for Therapeutic targetS) consortium aims to identify the genomic and molecular basis of heart failure.\ under an additive genetic model.\ HERMES is a global collaboration aiming to (i) identify the genetic determinants of heart failure; (ii) generate insights into the causal pathways leading to heart failure and enable genetic approaches to target prioritization; and (iii) develop genomic tools for disease stratification and risk prediction.},
	author = {Lumbers, R. T. and Shah, S. and Lin, H. and Czuba, T. and Henry, A. and Swerdlow, D. I. and Malarstig, A. and Andersson, C. and Verweij, N. and Holmes, M. V. and {\"A}rnl{\"o}v, J. and Svensson, P. and Hemingway, H. and Sallah, N. and Almgren, P. and Aragam, K. G. and Asselin, G. and Backman, J. D. and Biggs, M. L. and Bloom, H. L. and Boersma, E. and Brandimarto, J. and Brown, M. R. and Brunner-La Rocca, H. P. and Carey, D. J. and Chaffin, M. D. and Chasman, D. I. and Chazara, O. and Chen, X. and Chen, X. and Chung, J. H. and Chutkow, W. and Cleland, J. G. F. and Cook, J. P. and de Denus, S. and Dehghan, A. and Delgado, G. E. and Denaxas, S. and Doney, A. S. and D{\"o}rr, M. and Dudley, S. C. and Engstr{\"o}m, G. and Esko, T. and Fatemifar, G. and Felix, S. B. and Finan, C. and Ford, I. and Fougerousse, F. and Fouodjio, R. and Ghanbari, M. and Ghasemi, S. and Giedraitis, V. and Giulianini, F. and Gottdiener, J. S. and Gross, S. and Gu{\dh}bjartsson, D. F. and Gui, H. and Gutmann, R. and Haggerty, C. M. and van der Harst, P. and Hedman, {\r A}. K. and Helgadottir, A. and Hillege, H. and Hyde, C. L. and Jacob, J. and Jukema, J. W. and Kamanu, F. and Kardys, I. and Kavousi, M. and Khaw, K. T. and Kleber, M. E. and K{\o}ber, L. and Koekemoer, A. and Kraus, B. and Kuchenbaecker, K. and Langenberg, C. and Lind, L. and Lindgren, C. M. and London, B. and Lotta, L. A. and Lovering, R. C. and Luan, J. and Magnusson, P. and Mahajan, A. and Mann, D. and Margulies, K. B. and Marston, N. A. and M{\"a}rz, W. and McMurray, J. J. V. and Melander, O. and Melloni, G. and Mordi, I. R. and Morley, M. P. and Morris, A. D. and Morris, A. P. and Morrison, A. C. and Nagle, M. W. and Nelson, C. P. and Newton-Cheh, C. and Niessner, A. and Niiranen, T. and Nowak, C. and O{\textquoteright}Donoghue, M. L. and Owens, A. T. and Palmer, C. N. A. and Pare, G. and Perola, M. and Perreault, L. L. and Portilla-Fernandez, E. and Psaty, B. M. and Rice, K. M. and Ridker, P. M. and Romaine, S. P. R. and Roselli, C. and Rotter, J. I. and Ruff, C. T. and Sabatine, M. S. and Salo, P. and Salomaa, V. and van Setten, J. and Shalaby, A. A. and Smelser, D. T. and Smith, N. L. and Stefansson, K. and Stender, S. and Stott, D. J. and Sveinbjornsson, G. and Tammesoo, M. L. and Tardif, J. C. and Taylor, K. D. and Teder-Laving, M. and Teumer, A. and Thorgeirsson, G. and Thorsteinsdottir, U. and Torp-Pedersen, C. and Trompet, S. and Tuckwell, D. and Tyl, B. and Uitterlinden, A. G. and Vaura, F. and Veluchamy, A. and Visscher, P. M. and V{\"o}lker, U. and Voors, A. A. and Wang, X. and Wareham, N. J. and Weeke, P. E. and Weiss, R. and White, H. D. and Wiggins, K. L. and Xing, H. and Yang, J. and Yang, Y. and Yerges-Armstrong, L. M. and Yu, B. and Zannad, F. and Zhao, F. and Wilk, J. B. and Holm, H. and Sattar, N. and Lubitz, S. A. and Lanfear, D. E. and Shah, S. and Dunn, M. E. and Wells, Q. S. and Asselbergs, F. W. and Hingorani, A. D. and Dub{\'e}, M. P. and Samani, N. J. and Lang, C. C. and Cappola, T. P. and Ellinor, P. T. and Vasan, R. S. and Smith, J. G.}
}
@article {9106,
	title = {{Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate},
	journal = {Brain},
	volume = {145},
	year = {2022},
	month = {Jun},
	pages = {1992{\textendash}2007},
	abstract = {Cerebral small vessel disease is a leading cause of stroke and a major contributor to cognitive decline and dementia, but our understanding of specific genes underlying the cause of sporadic cerebral small vessel disease is limited. We report a genome-wide association study and a whole-exome association study on a composite extreme phenotype of cerebral small vessel disease derived from its most common MRI features: white matter hyperintensities and lacunes. Seventeen population-based cohorts of older persons with MRI measurements and genome-wide genotyping (n = 41 326), whole-exome sequencing (n = 15 965), or exome chip (n = 5249) data contributed 13 776 and 7079 extreme small vessel disease samples for the genome-wide association study and whole-exome association study, respectively. The genome-wide association study identified significant association of common variants in 11 loci with extreme small vessel disease, of which the chr12q24.11 locus was not previously reported to be associated with any MRI marker of cerebral small vessel disease. The whole-exome association study identified significant associations of extreme small vessel disease with common variants in the 5{\textquoteright} UTR region of EFEMP1 (chr2p16.1) and one probably damaging common missense variant in TRIM47 (chr17q25.1). Mendelian randomization supports the causal association of extensive small vessel disease severity with increased risk of stroke and Alzheimer{\textquoteright}s disease. Combined evidence from summary-based Mendelian randomization studies and profiling of human loss-of-function allele carriers showed an inverse relation between TRIM47 expression in the brain and blood vessels and extensive small vessel disease severity. We observed significant enrichment of Trim47 in isolated brain vessel preparations compared to total brain fraction in mice, in line with the literature showing Trim47 enrichment in brain endothelial cells at single cell level. Functional evaluation of TRIM47 by small interfering RNAs-mediated knockdown in human brain endothelial cells showed increased endothelial permeability, an important hallmark of cerebral small vessel disease pathology. Overall, our comprehensive gene-mapping study and preliminary functional evaluation suggests a putative role of TRIM47 in the pathophysiology of cerebral small vessel disease, making it an important candidate for extensive in vivo explorations and future translational work.},
	author = {Mishra, A. and Dupla{\`a}, C. and Vojinovic, D. and Suzuki, H. and Sargurupremraj, M. and Zilhao, N. R. and Li, S. and Bartz, T. M. and Jian, X. and Zhao, W. and Hofer, E. and Wittfeld, K. and Harris, S. E. and van der Auwera-Palitschka, S. and Luciano, M. and Bis, J. C. and Adams, H. H. H. and Satizabal, C. L. and Gottesman, R. F. and Gampawar, P. G. and B{\"u}low, R. and Weiss, S. and Yu, M. and Bastin, M. E. and Lopez, O. L. and Vernooij, M. W. and Beiser, A. S. and V{\"o}lker, U. and Kacprowski, T. and Soumare, A. and Smith, J. A. and Knopman, D. S. and Morris, Z. and Zhu, Y. and Rotter, J. I. and Dufouil, C. and Vald{\'e}s Hern{\'a}ndez, M. and Mu{\~n}oz Maniega, S. and Lathrop, M. and Boerwinkle, E. and Schmidt, R. and Ihara, M. and Mazoyer, B. and Yang, Q. and Joutel, A. and Tournier-Lasserve, E. and Launer, L. J. and Deary, I. J. and Mosley, T. H. and Amouyel, P. and DeCarli, C. S. and Psaty, B. M. and Tzourio, C. and Kardia, S. L. R. and Grabe, H. J. and Teumer, A. and van Duijn, C. M. and Schmidt, H. and Wardlaw, J. M. and Ikram, M. A. and Fornage, M. and Gudnason, V. and Seshadri, S. and Matthews, P. M. and Longstreth, W. T. and Couffinhal, T. and Debette, S.}
}
@article {9186,
	title = {{Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways},
	journal = {Nat Commun},
	volume = {13},
	year = {2022},
	month = {09},
	pages = {5144},
	abstract = {250,000 individuals) we identify 177, 156 and 121 independent loci for QT, JT and QRS, respectively, including a male-specific X-chromosome locus. Using gene-based rare-variant methods, we identify associations with Mendelian disease genes. Enrichments are observed in established pathways for QT and JT, and previously unreported genes indicated in insulin-receptor signalling and cardiac energy metabolism. In contrast for QRS, connective tissue components and processes for cell growth and extracellular matrix interactions are significantly enriched. We demonstrate polygenic risk score associations with atrial fibrillation, conduction disease and sudden cardiac death. Prioritization of druggable genes highlight potential therapeutic targets for arrhythmia. Together, these results substantially advance our understanding of the genetic architecture of ventricular depolarization and repolarization.},
	author = {Young, W. J. and Lahrouchi, N. and Isaacs, A. and Duong, T. and Foco, L. and Ahmed, F. and Brody, J. A. and Salman, R. and Noordam, R. and Benjamins, J. W. and Haessler, J. and Lyytik{\"a}inen, L. P. and Repetto, L. and Concas, M. P. and van den Berg, M. E. and Weiss, S. and Baldassari, A. R. and Bartz, T. M. and Cook, J. P. and Evans, D. S. and Freudling, R. and Hines, O. and Isaksen, J. L. and Lin, H. and Mei, H. and Moscati, A. and M{\"u}ller-Nurasyid, M. and Nursyifa, C. and Qian, Y. and Richmond, A. and Roselli, C. and Ryan, K. A. and Tarazona-Santos, E. and Th{\'e}riault, S. and van Duijvenboden, S. and Warren, H. R. and Yao, J. and Raza, D. and Aeschbacher, S. and Ahlberg, G. and Alonso, A. and Andreasen, L. and Bis, J. C. and Boerwinkle, E. and Campbell, A. and Catamo, E. and Cocca, M. and Cutler, M. J. and Darbar, D. and De Grandi, A. and De Luca, A. and Ding, J. and Ellervik, C. and Ellinor, P. T. and Felix, S. B. and Froguel, P. and Fuchsberger, C. and G{\"o}gele, M. and Graff, C. and Graff, M. and Guo, X. and Hansen, T. and Heckbert, S. R. and Huang, P. L. and Huikuri, H. V. and Hutri-K{\"a}h{\"o}nen, N. and Ikram, M. A. and Jackson, R. D. and Junttila, J. and Kavousi, M. and Kors, J. A. and Leal, T. P. and Lemaitre, R. N. and Lin, H. J. and Lind, L. and Linneberg, A. and Liu, S. and Macfarlane, P. W. and Mangino, M. and Meitinger, T. and Mezzavilla, M. and Mishra, P. P. and Mitchell, R. N. and Mononen, N. and Montasser, M. E. and Morrison, A. C. and Nauck, M. and Nauffal, V. and Navarro, P. and Nikus, K. and Pare, G. and Patton, K. K. and Pelliccione, G. and Pittman, A. and Porteous, D. J. and Pramstaller, P. P. and Preuss, M. H. and Raitakari, O. T. and Reiner, A. P. and Ribeiro, A. L. P. and Rice, K. M. and Risch, L. and Schlessinger, D. and Schotten, U. and Schurmann, C. and Shen, X. and Shoemaker, M. B. and Sinagra, G. and Sinner, M. F. and Soliman, E. Z. and Stoll, M. and Strauch, K. and Tarasov, K. and Taylor, K. D. and Tinker, A. and Trompet, S. and Uitterlinden, A. and V{\"o}lker, U. and V{\"o}lzke, H. and Waldenberger, M. and Weng, L. C. and Whitsel, E. A. and Wilson, J. G. and Avery, C. L. and Conen, D. and Correa, A. and Cucca, F. and D{\"o}rr, M. and Gharib, S. A. and Girotto, G. and Grarup, N. and Hayward, C. and Jamshidi, Y. and Jarvelin, M. R. and Jukema, J. W. and K{\"a}{\"a}b, S. and K{\"a}h{\"o}nen, M. and Kanters, J. K. and Kooperberg, C. and Lehtim{\"a}ki, T. and Lima-Costa, M. F. and Liu, Y. and Loos, R. J. F. and Lubitz, S. A. and Mook-Kanamori, D. O. and Morris, A. P. and O{\textquoteright}Connell, J. R. and Olesen, M. S. and Orini, M. and Padmanabhan, S. and Pattaro, C. and Peters, A. and Psaty, B. M. and Rotter, J. I. and Stricker, B. and van der Harst, P. and van Duijn, C. M. and Verweij, N. and Wilson, J. F. and Arking, D. E. and Ramirez, J. and Lambiase, P. D. and Sotoodehnia, N. and Mifsud, B. and Newton-Cheh, C. and Munroe, P. B.}
}
@article {9312,
	title = {{Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study},
	journal = {Hum Mol Genet},
	volume = {31},
	year = {2022},
	month = {Oct},
	pages = {3566{\textendash}3579},
	abstract = {0.0001), known risk factors for AAA, consistent with a causal association with AAD. Our findings point to new biology as well as highlighting gene regions in mechanisms that have previously been implicated in the genetics of other vascular diseases.},
	author = {Portilla-Fernandez, E. and Klarin, D. and Hwang, S. J. and Biggs, M. L. and Bis, J. C. and Weiss, S. and Rospleszcz, S. and Natarajan, P. and Hoffmann, U. and Rogers, I. S. and Truong, Q. A. and lker, U. and rr, M. and low, R. and Criqui, M. H. and Allison, M. and Ganesh, S. K. and Yao, J. and Waldenberger, M. and Bamberg, F. and Rice, K. M. and Essers, J. and Kapteijn, D. M. C. and van der Laan, S. W. and de Knegt, R. J. and Ghanbari, M. and Felix, J. F. and Ikram, M. A. and Kavousi, M. and Uitterlinden, A. G. and Roks, A. J. M. and Danser, A. H. J. and Tsao, P. S. and Damrauer, S. M. and Guo, X. and Rotter, J. I. and Psaty, B. M. and Kathiresan, S. and lzke, H. and Peters, A. and Johnson, C. and Strauch, K. and Meitinger, T. and O{\textquoteright}Donnell, C. J. and Dehghan, A.}
}
@article {8999,
	title = {{Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation},
	journal = {Hum Genet},
	volume = {141},
	year = {2022},
	month = {Jan},
	pages = {127{\textendash}146},
	abstract = {).},
	author = {Longchamps, R. J. and Yang, S. Y. and Castellani, C. A. and Shi, W. and Lane, J. and Grove, M. L. and Bartz, T. M. and Sarnowski, C. and Liu, C. and Burrows, K. and Guyatt, A. L. and Gaunt, T. R. and Kacprowski, T. and Yang, J. and De Jager, P. L. and Yu, L. and Bergman, A. and Xia, R. and Fornage, M. and Feitosa, M. F. and Wojczynski, M. K. and Kraja, A. T. and Province, M. A. and Amin, N. and Rivadeneira, F. and Tiemeier, H. and Uitterlinden, A. G. and Broer, L. and van Meurs, J. B. J. and van Duijn, C. M. and Raffield, L. M. and Lange, L. and Rich, S. S. and Lemaitre, R. N. and Goodarzi, M. O. and Sitlani, C. M. and Mak, A. C. Y. and Bennett, D. A. and Rodriguez, S. and Murabito, J. M. and Lunetta, K. L. and Sotoodehnia, N. and Atzmon, G. and Ye, K. and Barzilai, N. and Brody, J. A. and Psaty, B. M. and Taylor, K. D. and Rotter, J. I. and Boerwinkle, E. and Pankratz, N. and Arking, D. E.}
}
@article {9103,
	title = {{Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases},
	journal = {JCI Insight},
	volume = {7},
	year = {2022},
	month = {05},
	abstract = {Uromodulin (UMOD) is a major risk gene for monogenic and complex forms of kidney disease. The encoded kidney-specific protein uromodulin is highly abundant in urine and related to chronic kidney disease, hypertension, and pathogen defense. To gain insights into potential systemic roles, we performed genome-wide screens of circulating uromodulin using complementary antibody-based and aptamer-based assays. We detected 3 and 10 distinct significant loci, respectively. Integration of antibody-based results at the UMOD locus with functional genomics data (RNA-Seq, ATAC-Seq, Hi-C) of primary human kidney tissue highlighted an upstream variant with differential accessibility and transcription in uromodulin-synthesizing kidney cells as underlying the observed cis effect. Shared association patterns with complex traits, including chronic kidney disease and blood pressure, placed the PRKAG2 locus in the same pathway as UMOD. Experimental validation of the third antibody-based locus, B4GALNT2, showed that the p.Cys466Arg variant of the encoded N-acetylgalactosaminyltransferase had a loss-of-function effect leading to higher serum uromodulin levels. Aptamer-based results pointed to enzymes writing glycan marks present on uromodulin and to their receptors in the circulation, suggesting that this assay permits investigating uromodulin{\textquoteright}s complex glycosylation rather than its quantitative levels. Overall, our study provides insights into circulating uromodulin and its emerging functions.},
	author = {Li, Y. and Cheng, Y. and Consolato, F. and Schiano, G. and Chong, M. R. and Pietzner, M. and Nguyen, N. Q. H. and Scherer, N. and Biggs, M. L. and Kleber, M. E. and Haug, S. and G{\"o}{\c c}men, B. and Pigeyre, M. and Sekula, P. and Steinbrenner, I. and Schlosser, P. and Joseph, C. B. and Brody, J. A. and Grams, M. E. and Hayward, C. and Schultheiss, U. T. and Kr{\"a}mer, B. K. and Kronenberg, F. and Peters, A. and Seissler, J. and Steubl, D. and Then, C. and Wuttke, M. and M{\"a}rz, W. and Eckardt, K. U. and Gieger, C. and Boerwinkle, E. and Psaty, B. M. and Coresh, J. and Oefner, P. J. and Pare, G. and Langenberg, C. and Scherberich, J. E. and Yu, B. and Akilesh, S. and Devuyst, O. and Rampoldi, L. and K{\"o}ttgen, A.}
}
@article {9644,
	title = {{A genetic association study of circulating coagulation Factor VIII and von Willebrand Factor levels},
	journal = {Blood},
	year = {2024},
	month = {Feb},
	abstract = {10-9) at seven new loci for FVIII (ST3GAL4, CLEC4M, B3GNT2, ASGR1, F12, KNG1, and TREM1/NCR2) and one for VWF (B3GNT2). VWF, ABO, and STAB2 were associated with FVIII and VWF in gene-based analyses. Multi-phenotype analysis of FVIII and VWF identified another three new loci, including PDIA3. Silencing of B3GNT2 and the previously reported CD36 gene decreased release of FVIII by HLECs, while silencing of B3GNT2, CD36, and PDIA3 decreased release of VWF by HVECs. Mendelian randomization supports causal association of higher FVIII and VWF with increased risk of thrombotic outcomes. Seven new loci were identified for FVIII and one for VWF, with evidence supporting causal associations of FVIII and VWF with thrombotic outcomes. B3GNT2, CD36, and PDIA3 modulate the release of FVIII and/or VWF in vitro.},
	author = {de Vries, P. S. and Reventun, P. and Brown, M. R. and Heath, A. S. and Huffman, J. E. and Le, N. Q. and Bebo, A. and Brody, J. A. and Temprano-Sagrera, G. and Raffield, L. M. and Ozel, A. B. and Thibord, F. and Jain, D. and Lewis, J. P. and Rodriguez, B. A. T. and Pankratz, N. and Taylor, K. D. and Polasek, O. and Chen, M. H. and Yanek, L. R. and Carrasquilla, G. D. and Marioni, R. and Kleber, M. E. and t, D. A. and Yao, J. and Li-Gao, R. and Joshi, P. K. and Trompet, S. and Martinez-Perez, A. and Ghanbari, M. and Howard, T. E. and Reiner, A. P. and Arvanitis, M. and Ryan, K. A. and Bartz, T. M. and Rudan, I. and Faraday, N. and Linneberg, A. and Ekunwe, L. and Davies, G. and Delgado, G. E. and Suchon, P. and Guo, X. and Rosendaal, F. R. and Klaric, L. and Noordam, R. and van Rooij, F. and Curran, J. E. and Wheeler, M. M. and Osburn, W. O. and O{\textquoteright}Connell, J. R. and Boerwinkle, E. and Beswick, A. and Psaty, B. M. and Kolcic, I. and Souto, J. C. and Becker, L. C. and Hansen, T. and Doyle, M. F. and Harris, S. E. and Moissl, A. P. and Deleuze, J. F. and Rich, S. S. and van Hylckama Vlieg, A. and Campbell, H. and Stott, D. J. and Soria, J. M. and de Maat, M. P. M. and Almasy, L. and Brody, L. C. and Auer, P. L. and Mitchell, B. D. and Ben-Shlomo, Y. and Fornage, M. and Hayward, C. and Mathias, R. A. and inen, T. O. and Lange, L. A. and Cox, S. R. and rz, W. and Morange, P. E. and Rotter, J. I. and Mook-Kanamori, D. O. and Wilson, J. F. and van der Harst, P. and Jukema, J. W. and Ikram, M. A. and Blangero, J. and Kooperberg, C. and Desch, K. C. and Johnson, A. D. and Sabater-Lleal, M. and Lowenstein, C. J. and Smith, N. L. and Morrison, A. C.}
}
