@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 {8510,
	title = {{A meta-analysis of genome-wide association studies identifies multiple longevity genes},
	journal = {Nat Commun},
	volume = {10},
	year = {2019},
	month = {08},
	pages = {3669},
	abstract = {Human longevity is heritable, but genome-wide association (GWA) studies have had limited success. Here, we perform two meta-analyses of GWA studies of a rigorous longevity phenotype definition including 11,262/3484 cases surviving at or beyond the age corresponding to the 90th/99th survival percentile, respectively, and 25,483 controls whose age at death or at last contact was at or below the age corresponding to the 60th survival percentile. Consistent with previous reports, rs429358 (apolipoprotein E (ApoE) {\^I}{\textmu}4) is associated with lower odds of surviving to the 90th and 99th percentile age, while rs7412 (ApoE {\^I}{\textmu}2) shows the opposite. Moreover, rs7676745, located near GPR78, associates with lower odds of surviving to the 90th percentile age. Gene-level association analysis reveals a role for tissue-specific expression of multiple genes in longevity. Finally, genetic correlation of the longevity GWA results with that of several disease-related phenotypes points to a shared genetic architecture between health and longevity.},
	author = {Deelen, J. and Evans, D. S. and Arking, D. E. and Tesi, N. and Nygaard, M. and Liu, X. and Wojczynski, M. K. and Biggs, M. L. and van der Spek, A. and Atzmon, G. and Ware, E. B. and Sarnowski, C. and Smith, A. V. and Sepp?l?, I. and Cordell, H. J. and Dose, J. and Amin, N. and Arnold, A. M. and Ayers, K. L. and Barzilai, N. and Becker, E. J. and Beekman, M. and Blanch?, H. and Christensen, K. and Christiansen, L. and Collerton, J. C. and Cubaynes, S. and Cummings, S. R. and Davies, K. and Debrabant, B. and Deleuze, J. F. and Duncan, R. and Faul, J. D. and Franceschi, C. and Galan, P. and Gudnason, V. and Harris, T. B. and Huisman, M. and Hurme, M. A. and Jagger, C. and Jansen, I. and Jylh?, M. and K?h?nen, M. and Karasik, D. and Kardia, S. L. R. and Kingston, A. and Kirkwood, T. B. L. and Launer, L. J. and Lehtim?ki, T. and Lieb, W. and Lyytik?inen, L. P. and Martin-Ruiz, C. and Min, J. and Nebel, A. and Newman, A. B. and Nie, C. and Nohr, E. A. and Orwoll, E. S. and Perls, T. T. and Province, M. A. and Psaty, B. M. and Raitakari, O. T. and Reinders, M. J. T. and Robine, J. M. and Rotter, J. I. and Sebastiani, P. and Smith, J. and S?rensen, T. I. A. and Taylor, K. D. and Uitterlinden, A. G. and van der Flier, W. and van der Lee, S. J. and van Duijn, C. M. and van Heemst, D. and Vaupel, J. W. and Weir, D. and Ye, K. and Zeng, Y. and Zheng, W. and Holstege, H. and Kiel, D. P. and Lunetta, K. L. and Slagboom, P. E. and Murabito, J. M.}
}
@article {9310,
	title = {{A meta-analysis of genome-wide association studies identifies multiple longevity genes},
	journal = {Nat Commun},
	volume = {10},
	year = {2019},
	month = {Aug},
	pages = {3669},
	abstract = {2) shows the opposite. Moreover, rs7676745, located near GPR78, associates with lower odds of surviving to the 90th percentile age. Gene-level association analysis reveals a role for tissue-specific expression of multiple genes in longevity. Finally, genetic correlation of the longevity GWA results with that of several disease-related phenotypes points to a shared genetic architecture between health and longevity.},
	author = {Deelen, J. and Evans, D. S. and Arking, D. E. and Tesi, N. and Nygaard, M. and Liu, X. and Wojczynski, M. K. and Biggs, M. L. and van der Spek, A. and Atzmon, G. and Ware, E. B. and Sarnowski, C. and Smith, A. V. and {\"a}, I. and Cordell, H. J. and Dose, J. and Amin, N. and Arnold, A. M. and Ayers, K. L. and Barzilai, N. and Becker, E. J. and Beekman, M. and {\'e}, H. and Christensen, K. and Christiansen, L. and Collerton, J. C. and Cubaynes, S. and Cummings, S. R. and Davies, K. and Debrabant, B. and Deleuze, J. F. and Duncan, R. and Faul, J. D. and Franceschi, C. and Galan, P. and Gudnason, V. and Harris, T. B. and Huisman, M. and Hurme, M. A. and Jagger, C. and Jansen, I. and {\"a}, M. and nen, M. and Karasik, D. and Kardia, S. L. R. and Kingston, A. and Kirkwood, T. B. L. and Launer, L. J. and ki, T. and Lieb, W. and inen, L. P. and Martin-Ruiz, C. and Min, J. and Nebel, A. and Newman, A. B. and Nie, C. and Nohr, E. A. and Orwoll, E. S. and Perls, T. T. and Province, M. A. and Psaty, B. M. and Raitakari, O. T. and Reinders, M. J. T. and Robine, J. M. and Rotter, J. I. and Sebastiani, P. and Smith, J. and rensen, T. I. A. and Taylor, K. D. and Uitterlinden, A. G. and van der Flier, W. and van der Lee, S. J. and van Duijn, C. M. and van Heemst, D. and Vaupel, J. W. and Weir, D. and Ye, K. and Zeng, Y. and Zheng, W. and Holstege, H. and Kiel, D. P. and Lunetta, K. L. and Slagboom, P. E. and Murabito, J. M.}
}
@article {8281,
	title = {{A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure},
	journal = {Hum. Mol. Genet.},
	year = {2019},
	month = {Apr},
	abstract = {Elevated blood pressure (BP), a leading cause of global morbidity and mortality, is influenced by both genetic and lifestyle factors. Cigarette smoking is one such lifestyle factor. Across five ancestries, we performed a genome-wide gene-smoking interaction study of mean arterial pressure (MAP) and pulse pressure (PP) in 129 913 individuals in stage 1 and follow-up analysis in 480 178 additional individuals in stage 2. We report here 136 loci significantly associated with MAP and/or PP. Of these, 61 were previously published through main-effect analysis of BP traits, 37 were recently reported by us for systolic BP and/or diastolic BP through gene-smoking interaction analysis and 38 were newly identified (P < 5 {\~A}{\textemdash} 10-8, false discovery rate < 0.05). We also identified nine new signals near known loci. Of the 136 loci, 8 showed significant interaction with smoking status. They include CSMD1 previously reported for insulin resistance and BP in the spontaneously hypertensive rats. Many of the 38 new loci show biologic plausibility for a role in BP regulation. SLC26A7 encodes a chloride/bicarbonate exchanger expressed in the renal outer medullary collecting duct. AVPR1A is widely expressed, including in vascular smooth muscle cells, kidney, myocardium and brain. FHAD1 is a long non-coding RNA overexpressed in heart failure. TMEM51 was associated with contractile function in cardiomyocytes. CASP9 plays a central role in cardiomyocyte apoptosis. Identified only in African ancestry were 30 novel loci. Our findings highlight the value of multi-ancestry investigations, particularly in studies of interaction with lifestyle factors, where genomic and lifestyle differences may contribute to novel findings.},
	author = {Sung, Y. J. and de Las Fuentes, L. and Winkler, T. W. and Chasman, D. I. and Bentley, A. R. and Kraja, A. T. and Ntalla, I. and Warren, H. R. and Guo, X. and Schwander, K. and Manning, A. K. and Brown, M. R. and Aschard, H. and Feitosa, M. F. and Franceschini, N. and Lu, Y. and Cheng, C. Y. and Sim, X. and Vojinovic, D. and Marten, J. and Musani, S. K. and Kilpel?inen, T. O. and Richard, M. A. and Aslibekyan, S. and Bartz, T. M. and Dorajoo, R. and Li, C. and Liu, Y. and Rankinen, T. and Smith, A. V. and Tajuddin, S. M. and Tayo, B. O. and Zhao, W. and Zhou, Y. and Matoba, N. and Sofer, T. and Alver, M. and Amini, M. and Boissel, M. and Chai, J. F. and Chen, X. and Divers, J. and Gandin, I. and Gao, C. and Giulianini, F. and Goel, A. and Harris, S. E. and Hartwig, F. P. and He, M. and Horimoto, A. R. V. R. and Hsu, F. C. and Jackson, A. U. and Kammerer, C. M. and Kasturiratne, A. and Komulainen, P. and K?hnel, B. and Leander, K. and Lee, W. J. and Lin, K. H. and Luan, J. and Lyytik?inen, L. P. and McKenzie, C. A. and Nelson, C. P. and Noordam, R. and Scott, R. A. and Sheu, W. H. H. and Stan??kov?, A. and Takeuchi, F. and van der Most, P. J. and Varga, T. V. and Waken, R. J. and Wang, H. and Wang, Y. and Ware, E. B. and Weiss, S. and Wen, W. and Yanek, L. R. and Zhang, W. and Zhao, J. H. and Afaq, S. and Alfred, T. and Amin, N. and Arking, D. E. and Aung, T. and Barr, R. G. and Bielak, L. F. and Boerwinkle, E. and Bottinger, E. P. and Braund, P. S. and Brody, J. A. and Broeckel, U. and Cade, B. and Campbell, A. and Canouil, M. and Chakravarti, A. and Cocca, M. and Collins, F. S. and Connell, J. M. and de Mutsert, R. and de Silva, H. J. and D?rr, M. and Duan, Q. and Eaton, C. B. and Ehret, G. and Evangelou, E. and Faul, J. D. and Forouhi, N. G. and Franco, O. H. and Friedlander, Y. and Gao, H. and Gigante, B. and Gu, C. C. and Gupta, P. and Hagenaars, S. P. and Harris, T. B. and He, J. and Heikkinen, S. and Heng, C. K. and Hofman, A. and Howard, B. V. and Hunt, S. C. and Irvin, M. R. and Jia, Y. and Katsuya, T. and Kaufman, J. and Kerrison, N. D. and Khor, C. C. and Koh, W. P. and Koistinen, H. A. and Kooperberg, C. B. and Krieger, J. E. and Kubo, M. and Kutalik, Z. and Kuusisto, J. and Lakka, T. A. and Langefeld, C. D. and Langenberg, C. and Launer, L. J. and Lee, J. H. and Lehne, B. and Levy, D. and Lewis, C. E. and Li, Y. and Lim, S. H. and Liu, C. T. and Liu, J. and Liu, J. and Liu, Y. and Loh, M. and Lohman, K. K. and Louie, T. and M?gi, R. and Matsuda, K. and Meitinger, T. and Metspalu, A. and Milani, L. and Momozawa, Y. and Mosley, T. H. and Nalls, M. A. and Nasri, U. and O{\textquoteright}Connell, J. R. and Ogunniyi, A. and Palmas, W. R. and Palmer, N. D. and Pankow, J. S. and Pedersen, N. L. and Peters, A. and Peyser, P. A. and Polasek, O. and Porteous, D. and Raitakari, O. T. and Renstr?m, F. and Rice, T. K. and Ridker, P. M. and Robino, A. and Robinson, J. G. and Rose, L. M. and Rudan, I. and Sabanayagam, C. and Salako, B. L. and Sandow, K. and Schmidt, C. O. and Schreiner, P. J. and Scott, W. R. and Sever, P. and Sims, M. and Sitlani, C. M. and Smith, B. H. and Smith, J. A. and Snieder, H. and Starr, J. M. and Strauch, K. and Tang, H. and Taylor, K. D. and Teo, Y. Y. and Tham, Y. C. and Uitterlinden, A. G. and Waldenberger, M. and Wang, L. and Wang, Y. X. and Wei, W. B. and Wilson, G. and Wojczynski, M. K. and Xiang, Y. B. and Yao, J. and Yuan, J. M. and Zonderman, A. B. and Becker, D. M. and Boehnke, M. and Bowden, D. W. and Chambers, J. C. and Chen, Y. I. and Weir, D. R. and de Faire, U. and Deary, I. J. and Esko, T. and Farrall, M. and Forrester, T. and Freedman, B. I. and Froguel, P. and Gasparini, P. and Gieger, C. and Horta, B. L. and Hung, Y. J. and Jonas, J. B. and Kato, N. and Kooner, J. S. and Laakso, M. and Lehtim?ki, T. and Liang, K. W. and Magnusson, P. K. E. and Oldehinkel, A. J. and Pereira, A. C. and Perls, T. and Rauramaa, R. and Redline, S. and Rettig, R. and Samani, N. J. and Scott, J. and Shu, X. O. and van der Harst, P. and Wagenknecht, L. E. and Wareham, N. J. and Watkins, H. and Wickremasinghe, A. R. and Wu, T. and Kamatani, Y. and Laurie, C. C. and Bouchard, C. and Cooper, R. S. and Evans, M. K. and Gudnason, V. and Hixson, J. and Kardia, S. L. R. and Kritchevsky, S. B. and Psaty, B. M. and van Dam, R. M. and Arnett, D. K. and Mook-Kanamori, D. O. and Fornage, M. and Fox, E. R. and Hayward, C. and van Duijn, C. M. and Tai, E. S. and Wong, T. Y. and Loos, R. J. F. and Reiner, A. P. and Rotimi, C. N. and Bierut, L. J. and Zhu, X. and Cupples, L. A. and Province, M. A. and Rotter, J. I. and Franks, P. W. and Rice, K. and Elliott, P. and Caulfield, M. J. and Gauderman, W. J. and Munroe, P. B. and Rao, D. C. and Morrison, A. C.}
}
@article {8514,
	title = {{New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders},
	journal = {Nat Hum Behav},
	volume = {3},
	year = {2019},
	month = {09},
	pages = {950{\textendash}961},
	abstract = {Excessive alcohol consumption is one of the main causes of death and disability worldwide. Alcohol consumption is a heritable complex trait. Here we conducted a meta-analysis of genome-wide association studies of alcohol consumption (g d-1) from the UK Biobank, the Alcohol Genome-Wide Consortium and the Cohorts for Heart and Aging Research in Genomic Epidemiology Plus consortia, collecting data from 480,842 people of European descent to decipher the genetic architecture of alcohol intake. We identified 46 new common loci and investigated their potential functional importance using magnetic resonance imaging data and gene expression studies. We identify genetic pathways associated with alcohol consumption and suggest genetic mechanisms that are shared with neuropsychiatric disorders such as schizophrenia.},
	author = {Evangelou, E. and Gao, H. and Chu, C. and Ntritsos, G. and Blakeley, P. and Butts, A. R. and Pazoki, R. and Suzuki, H. and Koskeridis, F. and Yiorkas, A. M. and Karaman, I. and Elliott, J. and Luo, Q. and Aeschbacher, S. and Bartz, T. M. and Baumeister, S. E. and Braund, P. S. and Brown, M. R. and Brody, J. A. and Clarke, T. K. and Dimou, N. and Faul, J. D. and Homuth, G. and Jackson, A. U. and Kentistou, K. A. and Joshi, P. K. and Lemaitre, R. N. and Lind, P. A. and Lyytik?inen, L. P. and Mangino, M. and Milaneschi, Y. and Nelson, C. P. and Nolte, I. M. and Per?l?, M. M. and Polasek, O. and Porteous, D. and Ratliff, S. M. and Smith, J. A. and Stan??kov?, A. and Teumer, A. and Tuominen, S. and Th?riault, S. and Vangipurapu, J. and Whitfield, J. B. and Wood, A. and Yao, J. and Yu, B. and Zhao, W. and Arking, D. E. and Auvinen, J. and Liu, C. and M?nnikk?, M. and Risch, L. and Rotter, J. I. and Snieder, H. and Veijola, J. and Blakemore, A. I. and Boehnke, M. and Campbell, H. and Conen, D. and Eriksson, J. G. and Grabe, H. J. and Guo, X. and van der Harst, P. and Hartman, C. A. and Hayward, C. and Heath, A. C. and Jarvelin, M. R. and K?h?nen, M. and Kardia, S. L. R. and K?hne, M. and Kuusisto, J. and Laakso, M. and Lahti, J. and Lehtim?ki, T. and McIntosh, A. M. and Mohlke, K. L. and Morrison, A. C. and Martin, N. G. and Oldehinkel, A. J. and Penninx, B. W. J. H. and Psaty, B. M. and Raitakari, O. T. and Rudan, I. and Samani, N. J. and Scott, L. J. and Spector, T. D. and Verweij, N. and Weir, D. R. and Wilson, J. F. and Levy, D. and Tzoulaki, I. and Bell, J. D. and Matthews, P. M. and Rothenfluh, A. and Desrivi?res, S. and Schumann, G. and Elliott, P.}
}
@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 {8494,
	title = {{Mitochondrial DNA copy number and incident atrial fibrillation},
	journal = {BMC Med},
	volume = {18},
	year = {2020},
	month = {Sep},
	pages = {246},
	abstract = {Mechanistic studies suggest that mitochondria DNA (mtDNA) dysfunction may be associated with increased risk of atrial fibrillation (AF). The association between mtDNA copy number (mtDNA-CN) and incident AF in the general population, however, remains unknown.\ We conducted prospective analyses of 19,709 participants from the Atherosclerosis Risk in Communities Study (ARIC), the Multi-Ethnic Study of Atherosclerosis (MESA), and the Cardiovascular Health Study (CHS). mtDNA-CN from the peripheral blood was calculated from probe intensities on the Affymetrix Genome-Wide Human single nucleotide polymorphisms (SNP) Array 6.0 in ARIC and MESA and from multiplexed real-time quantitative polymerase chain reaction (qPCR) in CHS. Incident AF cases were identified through electrocardiograms, review of hospital discharge codes, Medicare claims, and death certificates.\ The median follow-up time was 21.4 years in ARIC, 12.9 years in MESA, and 11.0 years in CHS, during which 4021 participants developed incident atrial fibrillation (1761 in ARIC, 790 in MESA, and 1470 in CHS). In fully adjusted models, participants with the lowest quintile of mitochondria DNA copy number had an overall 13\% increased risk (95\% CI 1 to 27\%) of incident atrial fibrillation compared to those with the highest quintile. Dose-response spline analysis also showed an inverse association between mitochondria DNA copy number and hazard for atrial fibrillation for all three cohorts. These associations were consistent across subgroups.\ Mitochondria DNA copy number was inversely associated with the risk of AF independent of traditional cardiovascular risk factors. These findings implicate mitochondria DNA copy number as a novel risk factor for atrial fibrillation. Further research is warranted to understand the underlying mechanisms and to evaluate the role of mitochondria DNA copy number in the management of atrial fibrillation risk.},
	author = {Zhao, D. and Bartz, T. M. and Sotoodehnia, N. and Post, W. S. and Heckbert, S. R. and Alonso, A. and Longchamps, R. J. and Castellani, C. A. and Hong, Y. S. and Rotter, J. I. and Lin, H. J. and O{\textquoteright}Rourke, B. and Pankratz, N. and Lane, J. A. and Yang, S. Y. and Guallar, E. and Arking, D. E.}
}
@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 {8829,
	title = {{Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis},
	journal = {Circ Genom Precis Med},
	volume = {14},
	year = {2021},
	month = {Aug},
	pages = {e003300},
	abstract = {Alterations in electrocardiographic (ECG) intervals are well-known markers for arrhythmia and sudden cardiac death (SCD) risk. While the genetics of arrhythmia syndromes have been studied, relations between electrocardiographic intervals and rare genetic variation at a population level are poorly understood.\ Using a discovery sample of 29 000 individuals with whole-genome sequencing from Trans-Omics in Precision Medicine and replication in nearly 100 000 with whole-exome sequencing from the UK Biobank and MyCode, we examined associations between low-frequency and rare coding variants with 5 routinely measured electrocardiographic traits (RR, P-wave, PR, and QRS intervals and corrected QT interval).\ ), a marker of SCD risk. Incomplete penetrance of such deleterious variation was common as over 70\% of carriers had normal electrocardiographic intervals.\ Our findings indicate that large-scale high-depth sequence data and electrocardiographic analysis identifies monogenic arrhythmia susceptibility genes and rare variants with large effects. Known pathogenic variation in conventional arrhythmia and SCD genes exhibited incomplete penetrance and accounted for only a small fraction of marked electrocardiographic interval prolongation.},
	author = {Choi, S. H. and Jurgens, S. J. and Haggerty, C. M. and Hall, A. W. and Halford, J. L. and Morrill, V. N. and Weng, L. C. and Lagerman, B. and Mirshahi, T. and Pettinger, M. and Guo, X. and Lin, H. J. and Alonso, A. and Soliman, E. Z. and Kornej, J. and Lin, H. and Moscati, A. and Nadkarni, G. N. and Brody, J. A. and Wiggins, K. L. and Cade, B. E. and Lee, J. and Austin-Tse, C. and Blackwell, T. and Chaffin, M. D. and Lee, C. J. and Rehm, H. L. and Roselli, C. and Redline, S. and Mitchell, B. D. and Sotoodehnia, N. and Psaty, B. M. and Heckbert, S. R. and Loos, R. J. F. and Vasan, R. S. and Benjamin, E. J. and Correa, A. and Boerwinkle, E. and Arking, D. E. and Rotter, J. I. and Rich, S. S. and Whitsel, E. A. and Perez, M. and Kooperberg, C. and Fornwalt, B. K. and Lunetta, K. L. and Ellinor, P. T. and Lubitz, S. A.}
}
@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 {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.}
}
