@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 {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 {8538,
	title = {{Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects},
	journal = {Am J Hum Genet},
	volume = {102},
	year = {2018},
	month = {01},
	pages = {88{\textendash}102},
	abstract = {Bone mineral density (BMD) assessed by DXA is used to evaluate bone health. In children, total body (TB) measurements are commonly used; in older individuals, BMD at the lumbar spine (LS) and femoral neck (FN) is used to diagnose osteoporosis. To date, genetic variants in more than 60 loci have been identified as associated with BMD. To investigate the genetic determinants of TB-BMD variation along the life course and test for age-specific effects, we performed a meta-analysis of 30 genome-wide association studies (GWASs) of TB-BMD including 66,628 individuals overall and divided across five age strata, each spanning 15 years. We identified variants associated with TB-BMD at 80 loci, of which 36 have not been previously identified; overall, they explain approximately 10\% of the TB-BMD variance when combining all age groups and influence the risk of fracture. Pathway and enrichment analysis of the association signals showed clustering within gene sets implicated in the regulation of cell growth and SMAD proteins, overexpressed in the musculoskeletal system, and enriched in enhancer and promoter regions. These findings reveal TB-BMD as a relevant trait for genetic studies of osteoporosis, enabling the identification of variants and pathways influencing different bone compartments. Only variants in ESR1 and close proximity to RANKL showed a clear effect dependency on age. This most likely indicates that the majority of genetic variants identified influence BMD early in life and that their effect can be captured throughout the life course.},
	author = {Medina-Gomez, C. and Kemp, J. P. and Trajanoska, K. and Luan, J. and Chesi, A. and Ahluwalia, T. S. and Mook-Kanamori, D. O. and Ham, A. and Hartwig, F. P. and Evans, D. S. and Joro, R. and Nedeljkovic, I. and Zheng, H. F. and Zhu, K. and Atalay, M. and Liu, C. T. and Nethander, M. and Broer, L. and Porleifsson, G. and Mullin, B. H. and Handelman, S. K. and Nalls, M. A. and Jessen, L. E. and Heppe, D. H. M. and Richards, J. B. and Wang, C. and Chawes, B. and Schraut, K. E. and Amin, N. and Wareham, N. and Karasik, D. and Van der Velde, N. and Ikram, M. A. and Zemel, B. S. and Zhou, Y. and Carlsson, C. J. and Liu, Y. and McGuigan, F. E. and Boer, C. G. and B?nnelykke, K. and Ralston, S. H. and Robbins, J. A. and Walsh, J. P. and Zillikens, M. C. and Langenberg, C. and Li-Gao, R. and Williams, F. M. K. and Harris, T. B. and Akesson, K. and Jackson, R. D. and Sigurdsson, G. and den Heijer, M. and van der Eerden, B. C. J. and van de Peppel, J. and Spector, T. D. and Pennell, C. and Horta, B. L. and Felix, J. F. and Zhao, J. H. and Wilson, S. G. and de Mutsert, R. and Bisgaard, H. and Styrk?rsd?ttir, U. and Jaddoe, V. W. and Orwoll, E. and Lakka, T. A. and Scott, R. and Grant, S. F. A. and Lorentzon, M. and van Duijn, C. M. and Wilson, J. F. and Stefansson, K. and Psaty, B. M. and Kiel, D. P. and Ohlsson, C. and Ntzani, E. and van Wijnen, A. J. and Forgetta, V. and Ghanbari, M. and Logan, J. G. and Williams, G. R. and Bassett, J. H. D. and Croucher, P. I. and Evangelou, E. and Uitterlinden, A. G. and Ackert-Bicknell, C. L. and Tobias, J. H. and Evans, D. M. and Rivadeneira, F.}
}
@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 {8636,
	title = {{Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals},
	journal = {Nat Genet},
	volume = {52},
	year = {2020},
	month = {12},
	pages = {1314{\textendash}1332},
	abstract = {Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to  1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency {\^a}{\textperthousand}¤ 0.01) variant BP associations (P < 5 {\~A}{\textemdash} 10-8), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated regions. Average effects of rare variants (44\% coding) were  8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci (for example, GATA5 and PLCB3). BP-associated variants (including rare and common) were enriched in regions of active chromatin in fetal tissues, potentially linking fetal development with BP regulation in later life. Multivariable Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic BP on large artery stroke. Our study demonstrates the utility of rare-variant analyses for identifying candidate genes and the results highlight potential therapeutic targets.},
	author = {Surendran, P. and Feofanova, E. V. and Lahrouchi, N. and Ntalla, I. and Karthikeyan, S. and Cook, J. and Chen, L. and Mifsud, B. and Yao, C. and Kraja, A. T. and Cartwright, J. H. and Hellwege, J. N. and Giri, A. and Tragante, V. and Thorleifsson, G. and Liu, D. J. and Prins, B. P. and Stewart, I. D. and Cabrera, C. P. and Eales, J. M. and Akbarov, A. and Auer, P. L. and Bielak, L. F. and Bis, J. C. and Braithwaite, V. S. and Brody, J. A. and Daw, E. W. and Warren, H. R. and Drenos, F. and Nielsen, S. F. and Faul, J. D. and Fauman, E. B. and Fava, C. and Ferreira, T. and Foley, C. N. and Franceschini, N. and Gao, H. and Giannakopoulou, O. and Giulianini, F. and Gudbjartsson, D. F. and Guo, X. and Harris, S. E. and Havulinna, A. S. and Helgadottir, A. and Huffman, J. E. and Hwang, S. J. and Kanoni, S. and Kontto, J. and Larson, M. G. and Li-Gao, R. and Lindstr?m, J. and Lotta, L. A. and Lu, Y. and Luan, J. and Mahajan, A. and Malerba, G. and Masca, N. G. D. and Mei, H. and Menni, C. and Mook-Kanamori, D. O. and Mosen-Ansorena, D. and M?ller-Nurasyid, M. and Par?, G. and Paul, D. S. and Perola, M. and Poveda, A. and Rauramaa, R. and Richard, M. and Richardson, T. G. and Sep?lveda, N. and Sim, X. and Smith, A. V. and Smith, J. A. and Staley, J. R. and Stan?kov?, A. and Sulem, P. and Th?riault, S. and Thorsteinsdottir, U. and Trompet, S. and Varga, T. V. and Velez Edwards, D. R. and Veronesi, G. and Weiss, S. and Willems, S. M. and Yao, J. and Young, R. and Yu, B. and Zhang, W. and Zhao, J. H. and Zhao, W. and Zhao, W. and Evangelou, E. and Aeschbacher, S. and Asllanaj, E. and Blankenberg, S. and Bonnycastle, L. L. and Bork-Jensen, J. and Brandslund, I. and Braund, P. S. and Burgess, S. and Cho, K. and Christensen, C. and Connell, J. and Mutsert, R. and Dominiczak, A. F. and D?rr, M. and Eiriksdottir, G. and Farmaki, A. E. and Gaziano, J. M. and Grarup, N. and Grove, M. L. and Hallmans, G. and Hansen, T. and Have, C. T. and Heiss, G. and J?rgensen, M. E. and Jousilahti, P. and Kajantie, E. and Kamat, M. and K?r?j?m?ki, A. and Karpe, F. and Koistinen, H. A. and Kovesdy, C. P. and Kuulasmaa, K. and Laatikainen, T. and Lannfelt, L. and Lee, I. T. and Lee, W. J. and Linneberg, A. and Martin, L. W. and Moitry, M. and Nadkarni, G. and Neville, M. J. and Palmer, C. N. A. and Papanicolaou, G. J. and Pedersen, O. and Peters, J. and Poulter, N. and Rasheed, A. and Rasmussen, K. L. and Rayner, N. W. and M?gi, R. and Renstr?m, F. and Rettig, R. and Rossouw, J. and Schreiner, P. J. and Sever, P. S. and Sigurdsson, E. L. and Skaaby, T. and Sun, Y. V. and Sundstrom, J. and Thorgeirsson, G. and Esko, T. and Trabetti, E. and Tsao, P. S. and Tuomi, T. and Turner, S. T. and Tzoulaki, I. and Vaartjes, I. and Vergnaud, A. C. and Willer, C. J. and Wilson, P. W. F. and Witte, D. R. and Yonova-Doing, E. and Zhang, H. and Aliya, N. and Almgren, P. and Amouyel, P. and Asselbergs, F. W. and Barnes, M. R. and Blakemore, A. I. and Boehnke, M. and Bots, M. L. and Bottinger, E. P. and Buring, J. E. and Chambers, J. C. and Chen, Y. I. and Chowdhury, R. and Conen, D. and Correa, A. and Davey Smith, G. and Boer, R. A. and Deary, I. J. and Dedoussis, G. and Deloukas, P. and Di Angelantonio, E. and Elliott, P. and Felix, S. B. and Ferri?res, J. and Ford, I. and Fornage, M. and Franks, P. W. and Franks, S. and Frossard, P. and Gambaro, G. and Gaunt, T. R. and Groop, L. and Gudnason, V. and Harris, T. B. and Hayward, C. and Hennig, B. J. and Herzig, K. H. and Ingelsson, E. and Tuomilehto, J. and J?rvelin, M. R. and Jukema, J. W. and Kardia, S. L. R. and Kee, F. and Kooner, J. S. and Kooperberg, C. and Launer, L. J. and Lind, L. and Loos, R. J. F. and Majumder, A. A. S. and Laakso, M. and McCarthy, M. I. and Melander, O. and Mohlke, K. L. and Murray, A. D. and Nordestgaard, B. G. and Orho-Melander, M. and Packard, C. J. and Padmanabhan, S. and Palmas, W. and Polasek, O. and Porteous, D. J. and Prentice, A. M. and Province, M. A. and Relton, C. L. and Rice, K. and Ridker, P. M. and Rolandsson, O. and Rosendaal, F. R. and Rotter, J. I. and Rudan, I. and Salomaa, V. and Samani, N. J. and Sattar, N. and Sheu, W. H. and Smith, B. H. and Soranzo, N. and Spector, T. D. and Starr, J. M. and Sebert, S. and Taylor, K. D. and Lakka, T. A. and Timpson, N. J. and Tobin, M. D. and van der Harst, P. and van der Meer, P. and Ramachandran, V. S. and Verweij, N. and Virtamo, J. and V?lker, U. and Weir, D. R. and Zeggini, E. and Charchar, F. J. and Wareham, N. J. and Langenberg, C. and Tomaszewski, M. and Butterworth, A. S. and Caulfield, M. J. and Danesh, J. and Edwards, T. L. and Holm, H. and Hung, A. M. and Lindgren, C. M. and Liu, C. and Manning, A. K. and Morris, A. P. and Morrison, A. C. and O{\textquoteright}Donnell, C. J. and Psaty, B. M. and Saleheen, D. and Stefansson, K. and Boerwinkle, E. and Chasman, D. I. and Levy, D. and Newton-Cheh, C. and Munroe, P. B. and Howson, J. M. M. and de Boer, R. A. and van der Harst, P. and van der Meer, P. and Verweij, N. and Butterworth, A. S. and Danesh, J. and Langenberg, C. and Deloukas, P. and McCarthy, M. I. and Franks, P. W. and Rolandsson, O. and Wareham, N. J. and Prins, B. P. and Zeggini, E. and Hellwege, J. N. and Giri, A. and Edwards, D. R. V. and Cho, K. and Gaziano, J. M. and Kovesdy, C. P. and Sun, Y. V. and Tsao, P. S. and Wilson, P. W. F. and Edwards, T. L. and Hung, A. M. and O{\textquoteright}Donnell, C. J.}
}
@article {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 {8992,
	title = {{The power of genetic diversity in genome-wide association studies of lipids},
	journal = {Nature},
	volume = {600},
	year = {2021},
	month = {Dec},
	pages = {675{\textendash}679},
	abstract = {application of polygenic scores in clinical practice.},
	author = {Graham, S. E. and Clarke, S. L. and Wu, K. H. and Kanoni, S. and Zajac, G. J. M. and Ramdas, S. and Surakka, I. and Ntalla, I. and Vedantam, S. and Winkler, T. W. and Locke, A. E. and Marouli, E. and Hwang, M. Y. and Han, S. and Narita, A. and Choudhury, A. and Bentley, A. R. and Ekoru, K. and Verma, A. and Trivedi, B. and Martin, H. C. and Hunt, K. A. and Hui, Q. and Klarin, D. and Zhu, X. and Thorleifsson, G. and Helgadottir, A. and Gudbjartsson, D. F. and Holm, H. and Olafsson, I. and Akiyama, M. and Sakaue, S. and Terao, C. and Kanai, M. and Zhou, W. and Brumpton, B. M. and Rasheed, H. and Ruotsalainen, S. E. and Havulinna, A. S. and Veturi, Y. and Feng, Q. and Rosenthal, E. A. and Lingren, T. and Pacheco, J. A. and Pendergrass, S. A. and Haessler, J. and Giulianini, F. and Bradford, Y. and Miller, J. E. and Campbell, A. and Lin, K. and Millwood, I. Y. and Hindy, G. and Rasheed, A. and Faul, J. D. and Zhao, W. and Weir, D. R. and Turman, C. and Huang, H. and Graff, M. and Mahajan, A. and Brown, M. R. and Zhang, W. and Yu, K. and Schmidt, E. M. and Pandit, A. and Gustafsson, S. and Yin, X. and Luan, J. and Zhao, J. H. and Matsuda, F. and Jang, H. M. and Yoon, K. and Medina-Gomez, C. and Pitsillides, A. and Hottenga, J. J. and Willemsen, G. and Wood, A. R. and Ji, Y. and Gao, Z. and Haworth, S. and Mitchell, R. E. and Chai, J. F. and Aadahl, M. and Yao, J. and Manichaikul, A. and Warren, H. R. and Ramirez, J. and Bork-Jensen, J. and K{\r a}rhus, L. L. and Goel, A. and Sabater-Lleal, M. and Noordam, R. and Sidore, C. and Fiorillo, E. and McDaid, A. F. and Marques-Vidal, P. and Wielscher, M. and Trompet, S. and Sattar, N. and M{\o}llehave, L. T. and Thuesen, B. H. and Munz, M. and Zeng, L. and Huang, J. and Yang, B. and Poveda, A. and Kurbasic, A. and Lamina, C. and Forer, L. and Scholz, M. and Galesloot, T. E. and Bradfield, J. P. and Daw, E. W. and Zmuda, J. M. and Mitchell, J. S. and Fuchsberger, C. and Christensen, H. and Brody, J. A. and Feitosa, M. F. and Wojczynski, M. K. and Preuss, M. and Mangino, M. and Christofidou, P. and Verweij, N. and Benjamins, J. W. and Engmann, J. and Kember, R. L. and Slieker, R. C. and Lo, K. S. and Zilhao, N. R. and Le, P. and Kleber, M. E. and Delgado, G. E. and Huo, S. and Ikeda, D. D. and Iha, H. and Yang, J. and Liu, J. and Leonard, H. L. and Marten, J. and Schmidt, B. and Arendt, M. and Smyth, L. J. and Ca{\~n}adas-Garre, M. and Wang, C. and Nakatochi, M. and Wong, A. and Hutri-K{\"a}h{\"o}nen, N. and Sim, X. and Xia, R. and Huerta-Chagoya, A. and Fernandez-Lopez, J. C. and Lyssenko, V. and Ahmed, M. and Jackson, A. U. and Irvin, M. R. and Oldmeadow, C. and Kim, H. N. and Ryu, S. and Timmers, P. R. H. J. and Arbeeva, L. and Dorajoo, R. and Lange, L. A. and Chai, X. and Prasad, G. and Lor{\'e}s-Motta, L. and Pauper, M. and Long, J. and Li, X. and Theusch, E. and Takeuchi, F. and Spracklen, C. N. and Loukola, A. and Bollepalli, S. and Warner, S. C. and Wang, Y. X. and Wei, W. B. and Nutile, T. and Ruggiero, D. and Sung, Y. J. and Hung, Y. J. and Chen, S. and Liu, F. and Yang, J. and Kentistou, K. A. and Gorski, M. and Brumat, M. and Meidtner, K. and Bielak, L. F. and Smith, J. A. and Hebbar, P. and Farmaki, A. E. and Hofer, E. and Lin, M. and Xue, C. and Zhang, J. and Concas, M. P. and Vaccargiu, S. and van der Most, P. J. and Pitk{\"a}nen, N. and Cade, B. E. and Lee, J. and van der Laan, S. W. and Chitrala, K. N. and Weiss, S. and Zimmermann, M. E. and Lee, J. Y. and Choi, H. S. and Nethander, M. and Freitag-Wolf, S. and Southam, L. and Rayner, N. W. and Wang, C. A. and Lin, S. Y. and Wang, J. S. and Couture, C. and Lyytik{\"a}inen, L. P. and Nikus, K. and Cuellar-Partida, G. and Vestergaard, H. and Hildalgo, B. and Giannakopoulou, O. and Cai, Q. and Obura, M. O. and van Setten, J. and Li, X. and Schwander, K. and Terzikhan, N. and Shin, J. H. and Jackson, R. D. and Reiner, A. P. and Martin, L. W. and Chen, Z. and Li, L. and Highland, H. M. and Young, K. L. and Kawaguchi, T. and Thiery, J. and Bis, J. C. and Nadkarni, G. N. and Launer, L. J. and Li, H. and Nalls, M. A. and Raitakari, O. T. and Ichihara, S. and Wild, S. H. and Nelson, C. P. and Campbell, H. and J{\"a}ger, S. and Nabika, T. and Al-Mulla, F. and Niinikoski, H. and Braund, P. S. and Kolcic, I. and Kovacs, P. and Giardoglou, T. and Katsuya, T. and Bhatti, K. F. and de Kleijn, D. and de Borst, G. J. and Kim, E. K. and Adams, H. H. H. and Ikram, M. A. and Zhu, X. and Asselbergs, F. W. and Kraaijeveld, A. O. and Beulens, J. W. J. and Shu, X. O. and Rallidis, L. S. and Pedersen, O. and Hansen, T. and Mitchell, P. and Hewitt, A. W. and K{\"a}h{\"o}nen, M. and P{\'e}russe, L. and Bouchard, C. and Tonjes, A. and Chen, Y. I. and Pennell, C. E. and Mori, T. A. and Lieb, W. and Franke, A. and Ohlsson, C. and Mellstr{\"o}m, D. and Cho, Y. S. and Lee, H. and Yuan, J. M. and Koh, W. P. and Rhee, S. Y. and Woo, J. T. and Heid, I. M. and Stark, K. J. and V{\"o}lzke, H. and Homuth, G. and Evans, M. K. and Zonderman, A. B. and Polasek, O. and Pasterkamp, G. and Hoefer, I. E. and Redline, S. and Pahkala, K. and Oldehinkel, A. J. and Snieder, H. and Biino, G. and Schmidt, R. and Schmidt, H. and Chen, Y. E. and Bandinelli, S. and Dedoussis, G. and Thanaraj, T. A. and Kardia, S. L. R. and Kato, N. and Schulze, M. B. and Girotto, G. and Jung, B. and B{\"o}ger, C. A. and Joshi, P. K. and Bennett, D. A. and De Jager, P. L. and Lu, X. and Mamakou, V. and Brown, M. and Caulfield, M. J. and Munroe, P. B. and Guo, X. and Ciullo, M. and Jonas, J. B. and Samani, N. J. and Kaprio, J. and Pajukanta, P. and Adair, L. S. and Bechayda, S. A. and de Silva, H. J. and Wickremasinghe, A. R. and Krauss, R. M. and Wu, J. Y. and Zheng, W. and den Hollander, A. I. and Bharadwaj, D. and Correa, A. and Wilson, J. G. and Lind, L. and Heng, C. K. and Nelson, A. E. and Golightly, Y. M. and Wilson, J. F. and Penninx, B. and Kim, H. L. and Attia, J. and Scott, R. J. and Rao, D. C. and Arnett, D. K. and Walker, M. and Koistinen, H. A. and Chandak, G. R. and Yajnik, C. S. and Mercader, J. M. and Tusi{\'e}-Luna, T. and Aguilar-Salinas, C. A. and Villalpando, C. G. and Orozco, L. and Fornage, M. and Tai, E. S. and van Dam, R. M. and Lehtim{\"a}ki, T. and Chaturvedi, N. and Yokota, M. and Liu, J. and Reilly, D. F. and McKnight, A. J. and Kee, F. and J{\"o}ckel, K. H. and McCarthy, M. I. and Palmer, C. N. A. and Vitart, V. and Hayward, C. and Simonsick, E. and van Duijn, C. M. and Lu, F. and Qu, J. and Hishigaki, H. and Lin, X. and M{\"a}rz, W. and Parra, E. J. and Cruz, M. and Gudnason, V. and Tardif, J. C. and Lettre, G. and {\textquoteright}t Hart, L. M. and Elders, P. J. M. and Damrauer, S. M. and Kumari, M. and Kivimaki, M. and van der Harst, P. and Spector, T. D. and Loos, R. J. F. and Province, M. A. and Psaty, B. M. and Brandslund, I. and Pramstaller, P. P. and Christensen, K. and Ripatti, S. and Wid{\'e}n, E. and Hakonarson, H. and Grant, S. F. A. and Kiemeney, L. A. L. M. and de Graaf, J. and Loeffler, M. and Kronenberg, F. and Gu, D. and Erdmann, J. and Schunkert, H. and Franks, P. W. and Linneberg, A. and Jukema, J. W. and Khera, A. V. and M{\"a}nnikk{\"o}, M. and Jarvelin, M. R. and Kutalik, Z. and Cucca, F. and Mook-Kanamori, D. O. and van Dijk, K. W. and Watkins, H. and Strachan, D. P. and Grarup, N. and Sever, P. and Poulter, N. and Rotter, J. I. and Dantoft, T. M. and Karpe, F. and Neville, M. J. and Timpson, N. J. and Cheng, C. Y. and Wong, T. Y. and Khor, C. C. and Sabanayagam, C. and Peters, A. and Gieger, C. and Hattersley, A. T. and Pedersen, N. L. and Magnusson, P. K. E. and Boomsma, D. I. and de Geus, E. J. C. and Cupples, L. A. and van Meurs, J. B. J. and Ghanbari, M. and Gordon-Larsen, P. and Huang, W. and Kim, Y. J. and Tabara, Y. and Wareham, N. J. and Langenberg, C. and Zeggini, E. and Kuusisto, J. and Laakso, M. and Ingelsson, E. and Abecasis, G. and Chambers, J. C. and Kooner, J. S. and de Vries, P. S. and Morrison, A. C. and North, K. E. and Daviglus, M. and Kraft, P. and Martin, N. G. and Whitfield, J. B. and Abbas, S. and Saleheen, D. and Walters, R. G. and Holmes, M. V. and Black, C. and Smith, B. H. and Justice, A. E. and Baras, A. and Buring, J. E. and Ridker, P. M. and Chasman, D. I. and Kooperberg, C. and Wei, W. Q. and Jarvik, G. P. and Namjou, B. and Hayes, M. G. and Ritchie, M. D. and Jousilahti, P. and Salomaa, V. and Hveem, K. and {\r A}svold, B. O. and Kubo, M. and Kamatani, Y. and Okada, Y. and Murakami, Y. and Thorsteinsdottir, U. and Stefansson, K. and Ho, Y. L. and Lynch, J. A. and Rader, D. J. and Tsao, P. S. and Chang, K. M. and Cho, K. and O{\textquoteright}Donnell, C. J. and Gaziano, J. M. and Wilson, P. and Rotimi, C. N. and Hazelhurst, S. and Ramsay, M. and Trembath, R. C. and van Heel, D. A. and Tamiya, G. and Yamamoto, M. and Kim, B. J. and Mohlke, K. L. and Frayling, T. M. and Hirschhorn, J. N. and Kathiresan, S. and Boehnke, M. and Natarajan, P. and Peloso, G. M. and Brown, C. D. and Morris, A. P. and Assimes, T. L. and Deloukas, P. and Sun, Y. V. and Willer, C. J.}
}
@article {8772,
	title = {{The trans-ancestral genomic architecture of glycemic traits},
	journal = {Nat Genet},
	volume = {53},
	year = {2021},
	month = {06},
	pages = {840{\textendash}860},
	abstract = {10.1038/s41588-021-00852-9Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on individuals of European ancestry. Here we aggregated genome-wide association studies comprising up to 281,416 individuals without diabetes (30\% non-European ancestry) for whom fasting glucose, 2-h glucose after an oral glucose challenge, glycated hemoglobin and fasting insulin data were available. Trans-ancestry and single-ancestry meta-analyses identified 242 loci (99 novel; P < 5 {\texttimes} 10-8), 80\% of which had no significant evidence of between-ancestry heterogeneity. Analyses restricted to individuals of European ancestry with equivalent sample size would have led to 24 fewer new loci. Compared with single-ancestry analyses, equivalent-sized trans-ancestry fine-mapping reduced the number of estimated variants in 99\% credible sets by a median of 37.5\%. Genomic-feature, gene-expression and gene-set analyses revealed distinct biological signatures for each trait, highlighting different underlying biological pathways. Our results increase our understanding of diabetes pathophysiology by using trans-ancestry studies for improved power and resolution.},
	author = {Chen, J. and Spracklen, C. N. and Marenne, G. and Varshney, A. and Corbin, L. J. and Luan, J. and Willems, S. M. and Wu, Y. and Zhang, X. and Horikoshi, M. and Boutin, T. S. and M{\"a}gi, R. and Waage, J. and Li-Gao, R. and Chan, K. H. K. and Yao, J. and Anasanti, M. D. and Chu, A. Y. and Claringbould, A. and Heikkinen, J. and Hong, J. and Hottenga, J. J. and Huo, S. and Kaakinen, M. A. and Louie, T. and M{\"a}rz, W. and Moreno-Macias, H. and Ndungu, A. and Nelson, S. C. and Nolte, I. M. and North, K. E. and Raulerson, C. K. and Ray, D. and Rohde, R. and Rybin, D. and Schurmann, C. and Sim, X. and Southam, L. and Stewart, I. D. and Wang, C. A. and Wang, Y. and Wu, P. and Zhang, W. and Ahluwalia, T. S. and Appel, E. V. R. and Bielak, L. F. and Brody, J. A. and Burtt, N. P. and Cabrera, C. P. and Cade, B. E. and Chai, J. F. and Chai, X. and Chang, L. C. and Chen, C. H. and Chen, B. H. and Chitrala, K. N. and Chiu, Y. F. and de Haan, H. G. and Delgado, G. E. and Demirkan, A. and Duan, Q. and Engmann, J. and Fatumo, S. A. and Gay{\'a}n, J. and Giulianini, F. and Gong, J. H. and Gustafsson, S. and Hai, Y. and Hartwig, F. P. and He, J. and Heianza, Y. and Huang, T. and Huerta-Chagoya, A. and Hwang, M. Y. and Jensen, R. A. and Kawaguchi, T. and Kentistou, K. A. and Kim, Y. J. and Kleber, M. E. and Kooner, I. K. and Lai, S. and Lange, L. A. and Langefeld, C. D. and Lauzon, M. and Li, M. and Ligthart, S. and Liu, J. and Loh, M. and Long, J. and Lyssenko, V. and Mangino, M. and Marzi, C. and Montasser, M. E. and Nag, A. and Nakatochi, M. and Noce, D. and Noordam, R. and Pistis, G. and Preuss, M. and Raffield, L. and Rasmussen-Torvik, L. J. and Rich, S. S. and Robertson, N. R. and Rueedi, R. and Ryan, K. and Sanna, S. and Saxena, R. and Schraut, K. E. and Sennblad, B. and Setoh, K. and Smith, A. V. and Spars{\o}, T. and Strawbridge, R. J. and Takeuchi, F. and Tan, J. and Trompet, S. and van den Akker, E. and van der Most, P. J. and Verweij, N. and Vogel, M. and Wang, H. and Wang, C. and Wang, N. and Warren, H. R. and Wen, W. and Wilsgaard, T. and Wong, A. and Wood, A. R. and Xie, T. and Zafarmand, M. H. and Zhao, J. H. and Zhao, W. and Amin, N. and Arzumanyan, Z. and Astrup, A. and Bakker, S. J. L. and Baldassarre, D. and Beekman, M. and Bergman, R. N. and Bertoni, A. and Bl{\"u}her, M. and Bonnycastle, L. L. and Bornstein, S. R. and Bowden, D. W. and Cai, Q. and Campbell, A. and Campbell, H. and Chang, Y. C. and de Geus, E. J. C. and Dehghan, A. and Du, S. and Eiriksdottir, G. and Farmaki, A. E. and Fr{\r a}nberg, M. and Fuchsberger, C. and Gao, Y. and Gjesing, A. P. and Goel, A. and Han, S. and Hartman, C. A. and Herder, C. and Hicks, A. A. and Hsieh, C. H. and Hsueh, W. A. and Ichihara, S. and Igase, M. and Ikram, M. A. and Johnson, W. C. and J{\o}rgensen, M. E. and Joshi, P. K. and Kalyani, R. R. and Kandeel, F. R. and Katsuya, T. and Khor, C. C. and Kiess, W. and Kolcic, I. and Kuulasmaa, T. and Kuusisto, J. and L{\"a}ll, K. and Lam, K. and Lawlor, D. A. and Lee, N. R. and Lemaitre, R. N. and Li, H. and Lin, S. Y. and Lindstr{\"o}m, J. and Linneberg, A. and Liu, J. and Lorenzo, C. and Matsubara, T. and Matsuda, F. and Mingrone, G. and Mooijaart, S. and Moon, S. and Nabika, T. and Nadkarni, G. N. and Nadler, J. L. and Nelis, M. and Neville, M. J. and Norris, J. M. and Ohyagi, Y. and Peters, A. and Peyser, P. A. and Polasek, O. and Qi, Q. and Raven, D. and Reilly, D. F. and Reiner, A. and Rivideneira, F. and Roll, K. and Rudan, I. and Sabanayagam, C. and Sandow, K. and Sattar, N. and Sch{\"u}rmann, A. and Shi, J. and Stringham, H. M. and Taylor, K. D. and Teslovich, T. M. and Thuesen, B. and Timmers, P. R. H. J. and Tremoli, E. and Tsai, M. Y. and Uitterlinden, A. and van Dam, R. M. and van Heemst, D. and van Hylckama Vlieg, A. and Van Vliet-Ostaptchouk, J. V. and Vangipurapu, J. and Vestergaard, H. and Wang, T. and Willems van Dijk, K. and Zemunik, T. and Abecasis, G. R. and Adair, L. S. and Aguilar-Salinas, C. A. and Alarc{\'o}n-Riquelme, M. E. and An, P. and Aviles-Santa, L. and Becker, D. M. and Beilin, L. J. and Bergmann, S. and Bisgaard, H. and Black, C. and Boehnke, M. and Boerwinkle, E. and B{\"o}hm, B. O. and B{\o}nnelykke, K. and Boomsma, D. I. and Bottinger, E. P. and Buchanan, T. A. and Canouil, M. and Caulfield, M. J. and Chambers, J. C. and Chasman, D. I. and Chen, Y. I. and Cheng, C. Y. and Collins, F. S. and Correa, A. and Cucca, F. and de Silva, H. J. and Dedoussis, G. and Elmst{\r a}hl, S. and Evans, M. K. and Ferrannini, E. and Ferrucci, L. and Florez, J. C. and Franks, P. W. and Frayling, T. M. and Froguel, P. and Gigante, B. and Goodarzi, M. O. and Gordon-Larsen, P. and Grallert, H. and Grarup, N. and Grimsgaard, S. and Groop, L. and Gudnason, V. and Guo, X. and Hamsten, A. and Hansen, T. and Hayward, C. and Heckbert, S. R. and Horta, B. L. and Huang, W. and Ingelsson, E. and James, P. S. and Jarvelin, M. R. and Jonas, J. B. and Jukema, J. W. and Kaleebu, P. and Kaplan, R. and Kardia, S. L. R. and Kato, N. and Keinanen-Kiukaanniemi, S. M. and Kim, B. J. and Kivimaki, M. and Koistinen, H. A. and Kooner, J. S. and K{\"o}rner, A. and Kovacs, P. and Kuh, D. and Kumari, M. and Kutalik, Z. and Laakso, M. and Lakka, T. A. and Launer, L. J. and Leander, K. and Li, H. and Lin, X. and Lind, L. and Lindgren, C. and Liu, S. and Loos, R. J. F. and Magnusson, P. K. E. and Mahajan, A. and Metspalu, A. and Mook-Kanamori, D. O. and Mori, T. A. and Munroe, P. B. and Nj{\o}lstad, I. and O{\textquoteright}Connell, J. R. and Oldehinkel, A. J. and Ong, K. K. and Padmanabhan, S. and Palmer, C. N. A. and Palmer, N. D. and Pedersen, O. and Pennell, C. E. and Porteous, D. J. and Pramstaller, P. P. and Province, M. A. and Psaty, B. M. and Qi, L. and Raffel, L. J. and Rauramaa, R. and Redline, S. and Ridker, P. M. and Rosendaal, F. R. and Saaristo, T. E. and Sandhu, M. and Saramies, J. and Schneiderman, N. and Schwarz, P. and Scott, L. J. and Selvin, E. and Sever, P. and Shu, X. O. and Slagboom, P. E. and Small, K. S. and Smith, B. H. and Snieder, H. and Sofer, T. and S{\o}rensen, T. I. A. and Spector, T. D. and Stanton, A. and Steves, C. J. and Stumvoll, M. and Sun, L. and Tabara, Y. and Tai, E. S. and Timpson, N. J. and Tonjes, A. and Tuomilehto, J. and Tusie, T. and Uusitupa, M. and van der Harst, P. and van Duijn, C. and Vitart, V. and Vollenweider, P. and Vrijkotte, T. G. M. and Wagenknecht, L. E. and Walker, M. and Wang, Y. X. and Wareham, N. J. and Watanabe, R. M. and Watkins, H. and Wei, W. B. and Wickremasinghe, A. R. and Willemsen, G. and Wilson, J. F. and Wong, T. Y. and Wu, J. Y. and Xiang, A. H. and Yanek, L. R. and Yengo, L. and Yokota, M. and Zeggini, E. and Zheng, W. and Zonderman, A. B. and Rotter, J. I. and Gloyn, A. L. and McCarthy, M. I. and Dupuis, J. and Meigs, J. B. and Scott, R. A. and Prokopenko, I. and Leong, A. and Liu, C. T. and Parker, S. C. J. and Mohlke, K. L. and Langenberg, C. and Wheeler, E. and Morris, A. P. and Barroso, I. and de Haan, H. G. and van den Akker, E. and van der Most, P. J. and de Geus, E. J. C. and van Dam, R. M. and van Heemst, D. and van Hylckama Vlieg, A. and van Willems van Dijk, K. and de Silva, H. J. and van der Harst, P. and van Duijn, C.}
}
@article {9250,
	title = {{Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis},
	journal = {Genome Biol},
	volume = {23},
	year = {2022},
	month = {Dec},
	pages = {268},
	abstract = {Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.\ 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5\% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.\ Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.},
	author = {Kanoni, S. and Graham, S. E. and Wang, Y. and Surakka, I. and Ramdas, S. and Zhu, X. and Clarke, S. L. and Bhatti, K. F. and Vedantam, S. and Winkler, T. W. and Locke, A. E. and Marouli, E. and Zajac, G. J. M. and Wu, K. H. and Ntalla, I. and Hui, Q. and Klarin, D. and Hilliard, A. T. and Wang, Z. and Xue, C. and Thorleifsson, G. and Helgadottir, A. and Gudbjartsson, D. F. and Holm, H. and Olafsson, I. and Hwang, M. Y. and Han, S. and Akiyama, M. and Sakaue, S. and Terao, C. and Kanai, M. and Zhou, W. and Brumpton, B. M. and Rasheed, H. and Havulinna, A. S. and Veturi, Y. and Pacheco, J. A. and Rosenthal, E. A. and Lingren, T. and Feng, Q. and Kullo, I. J. and Narita, A. and Takayama, J. and Martin, H. C. and Hunt, K. A. and Trivedi, B. and Haessler, J. and Giulianini, F. and Bradford, Y. and Miller, J. E. and Campbell, A. and Lin, K. and Millwood, I. Y. and Rasheed, A. and Hindy, G. and Faul, J. D. and Zhao, W. and Weir, D. R. and Turman, C. and Huang, H. and Graff, M. and Choudhury, A. and Sengupta, D. and Mahajan, A. and Brown, M. R. and Zhang, W. and Yu, K. and Schmidt, E. M. and Pandit, A. and Gustafsson, S. and Yin, X. and Luan, J. and Zhao, J. H. and Matsuda, F. and Jang, H. M. and Yoon, K. and Medina-Gomez, C. and Pitsillides, A. and Hottenga, J. J. and Wood, A. R. and Ji, Y. and Gao, Z. and Haworth, S. and Yousri, N. A. and Mitchell, R. E. and Chai, J. F. and Aadahl, M. and Bjerregaard, A. A. and Yao, J. and Manichaikul, A. and Hwu, C. M. and Hung, Y. J. and Warren, H. R. and Ramirez, J. and Bork-Jensen, J. and rhus, L. L. and Goel, A. and Sabater-Lleal, M. and Noordam, R. and Mauro, P. and Matteo, F. and McDaid, A. F. and Marques-Vidal, P. and Wielscher, M. and Trompet, S. and Sattar, N. and llehave, L. T. and Munz, M. and Zeng, L. and Huang, J. and Yang, B. and Poveda, A. and Kurbasic, A. and Lamina, C. and Forer, L. and Scholz, M. and Galesloot, T. E. and Bradfield, J. P. and Ruotsalainen, S. E. and Daw, E. and Zmuda, J. M. and Mitchell, J. S. and Fuchsberger, C. and Christensen, H. and Brody, J. A. and Vazquez-Moreno, M. and Feitosa, M. F. and Wojczynski, M. K. and Wang, Z. and Preuss, M. H. and Mangino, M. and Christofidou, P. and Verweij, N. and Benjamins, J. W. and Engmann, J. and Tsao, N. L. and Verma, A. and Slieker, R. C. and Lo, K. S. and Zilhao, N. R. and Le, P. and Kleber, M. E. and Delgado, G. E. and Huo, S. and Ikeda, D. D. and Iha, H. and Yang, J. and Liu, J. and Demirkan, A. and Leonard, H. L. and Marten, J. and Frank, M. and Schmidt, B. and Smyth, L. J. and adas-Garre, M. and Wang, C. and Nakatochi, M. and Wong, A. and nen, N. and Sim, X. and Xia, R. and Huerta-Chagoya, A. and Fernandez-Lopez, J. C. and Lyssenko, V. and Nongmaithem, S. S. and Bayyana, S. and Stringham, H. M. and Irvin, M. R. and Oldmeadow, C. and Kim, H. N. and Ryu, S. and Timmers, P. R. H. J. and Arbeeva, L. and Dorajoo, R. and Lange, L. A. and Prasad, G. and s-Motta, L. and Pauper, M. and Long, J. and Li, X. and Theusch, E. and Takeuchi, F. and Spracklen, C. N. and Loukola, A. and Bollepalli, S. and Warner, S. C. and Wang, Y. X. and Wei, W. B. and Nutile, T. and Ruggiero, D. and Sung, Y. J. and Chen, S. and Liu, F. and Yang, J. and Kentistou, K. A. and Banas, B. and Nardone, G. G. and Meidtner, K. and Bielak, L. F. and Smith, J. A. and Hebbar, P. and Farmaki, A. E. and Hofer, E. and Lin, M. and Concas, M. P. and Vaccargiu, S. and van der Most, P. J. and nen, N. and Cade, B. E. and van der Laan, S. W. and Chitrala, K. N. and Weiss, S. and Bentley, A. R. and Doumatey, A. P. and Adeyemo, A. A. and Lee, J. Y. and Petersen, E. R. B. and Nielsen, A. A. and Choi, H. S. and Nethander, M. and Freitag-Wolf, S. and Southam, L. and Rayner, N. W. and Wang, C. A. and Lin, S. Y. and Wang, J. S. and Couture, C. and inen, L. P. and Nikus, K. and Cuellar-Partida, G. and Vestergaard, H. and Hidalgo, B. and Giannakopoulou, O. and Cai, Q. and Obura, M. O. and van Setten, J. and Li, X. and Liang, J. and Tang, H. and Terzikhan, N. and Shin, J. H. and Jackson, R. D. and Reiner, A. P. and Martin, L. W. and Chen, Z. and Li, L. and Kawaguchi, T. and Thiery, J. and Bis, J. C. and Launer, L. J. and Li, H. and Nalls, M. A. and Raitakari, O. T. and Ichihara, S. and Wild, S. H. and Nelson, C. P. and Campbell, H. and ger, S. and Nabika, T. and Al-Mulla, F. and Niinikoski, H. and Braund, P. S. and Kolcic, I. and Kovacs, P. and Giardoglou, T. and Katsuya, T. and de Kleijn, D. and de Borst, G. J. and Kim, E. K. and Adams, H. H. H. and Ikram, M. A. and Zhu, X. and Asselbergs, F. W. and Kraaijeveld, A. O. and Beulens, J. W. J. and Shu, X. O. and Rallidis, L. S. and Pedersen, O. and Hansen, T. and Mitchell, P. and Hewitt, A. W. and nen, M. and russe, L. and Bouchard, C. and njes, A. and Chen, Y. I. and Pennell, C. E. and Mori, T. A. and Lieb, W. and Franke, A. and Ohlsson, C. and m, D. and Cho, Y. S. and Lee, H. and Yuan, J. M. and Koh, W. P. and Rhee, S. Y. and Woo, J. T. and Heid, I. M. and Stark, K. J. and Zimmermann, M. E. and lzke, H. and Homuth, G. and Evans, M. K. and Zonderman, A. B. and Polasek, O. and Pasterkamp, G. and Hoefer, I. E. and Redline, S. and Pahkala, K. and Oldehinkel, A. J. and Snieder, H. and Biino, G. and Schmidt, R. and Schmidt, H. and Bandinelli, S. and Dedoussis, G. and Thanaraj, T. A. and Kardia, S. L. R. and Peyser, P. A. and Kato, N. and Schulze, M. B. and Girotto, G. and ger, C. A. and Jung, B. and Joshi, P. K. and Bennett, D. A. and De Jager, P. L. and Lu, X. and Mamakou, V. and Brown, M. and Caulfield, M. J. and Munroe, P. B. and Guo, X. and Ciullo, M. and Jonas, J. B. and Samani, N. J. and Kaprio, J. and Pajukanta, P. and -Luna, T. and Aguilar-Salinas, C. A. and Adair, L. S. and Bechayda, S. A. and de Silva, H. J. and Wickremasinghe, A. R. and Krauss, R. M. and Wu, J. Y. and Zheng, W. and Hollander, A. I. and Bharadwaj, D. and Correa, A. and Wilson, J. G. and Lind, L. and Heng, C. K. and Nelson, A. E. and Golightly, Y. M. and Wilson, J. F. and Penninx, B. and Kim, H. L. and Attia, J. and Scott, R. J. and Rao, D. C. and Arnett, D. K. and Hunt, S. C. and Walker, M. and Koistinen, H. A. and Chandak, G. R. and Mercader, J. M. and Costanzo, M. C. and Jang, D. and Burtt, N. P. and Villalpando, C. G. and Orozco, L. and Fornage, M. and Tai, E. and van Dam, R. M. and ki, T. and Chaturvedi, N. and Yokota, M. and Liu, J. and Reilly, D. F. and McKnight, A. J. and Kee, F. and ckel, K. H. and McCarthy, M. I. and Palmer, C. N. A. and Vitart, V. and Hayward, C. and Simonsick, E. and van Duijn, C. M. and Jin, Z. B. and Qu, J. and Hishigaki, H. and Lin, X. and rz, W. and Gudnason, V. and Tardif, J. C. and Lettre, G. and Hart, L. M. {\textquoteright} and Elders, P. J. M. and Damrauer, S. M. and Kumari, M. and Kivimaki, M. and van der Harst, P. and Spector, T. D. and Loos, R. J. F. and Province, M. A. and Parra, E. J. and Cruz, M. and Psaty, B. M. and Brandslund, I. and Pramstaller, P. P. and Rotimi, C. N. and Christensen, K. and Ripatti, S. and n, E. and Hakonarson, H. and Grant, S. F. A. and Kiemeney, L. A. L. M. and de Graaf, J. and Loeffler, M. and Kronenberg, F. and Gu, D. and Erdmann, J. and Schunkert, H. and Franks, P. W. and Linneberg, A. and Jukema, J. W. and Khera, A. V. and {\"o}, M. and Jarvelin, M. R. and Kutalik, Z. and Francesco, C. and Mook-Kanamori, D. O. and van Dijk, K. W. and Watkins, H. and Strachan, D. P. and Grarup, N. and Sever, P. and Poulter, N. and Chuang, L. M. and Rotter, J. I. and Dantoft, T. M. and Karpe, F. and Neville, M. J. and Timpson, N. J. and Cheng, C. Y. and Wong, T. Y. and Khor, C. C. and Li, H. and Sabanayagam, C. and Peters, A. and Gieger, C. and Hattersley, A. T. and Pedersen, N. L. and Magnusson, P. K. E. and Boomsma, D. I. and Willemsen, A. H. M. and Cupples, L. and van Meurs, J. B. J. and Ghanbari, M. and Gordon-Larsen, P. and Huang, W. and Kim, Y. J. and Tabara, Y. and Wareham, N. J. and Langenberg, C. and Zeggini, E. and Kuusisto, J. and Laakso, M. and Ingelsson, E. and Abecasis, G. and Chambers, J. C. and Kooner, J. S. and de Vries, P. S. and Morrison, A. C. and Hazelhurst, S. and Ramsay, M. and North, K. E. and Daviglus, M. and Kraft, P. and Martin, N. G. and Whitfield, J. B. and Abbas, S. and Saleheen, D. and Walters, R. G. and Holmes, M. V. and Black, C. and Smith, B. H. and Baras, A. and Justice, A. E. and Buring, J. E. and Ridker, P. M. and Chasman, D. I. and Kooperberg, C. and Tamiya, G. and Yamamoto, M. and van Heel, D. A. and Trembath, R. C. and Wei, W. Q. and Jarvik, G. P. and Namjou, B. and Hayes, M. G. and Ritchie, M. D. and Jousilahti, P. and Salomaa, V. and Hveem, K. and svold, B. O. and Kubo, M. and Kamatani, Y. and Okada, Y. and Murakami, Y. and Kim, B. J. and Thorsteinsdottir, U. and Stefansson, K. and Zhang, J. and Chen, Y. and Ho, Y. L. and Lynch, J. A. and Rader, D. J. and Tsao, P. S. and Chang, K. M. and Cho, K. and O{\textquoteright}Donnell, C. J. and Gaziano, J. M. and Wilson, P. W. F. and Frayling, T. M. and Hirschhorn, J. N. and Kathiresan, S. and Mohlke, K. L. and Sun, Y. V. and Morris, A. P. and Boehnke, M. and Brown, C. D. and Natarajan, P. and Deloukas, P. and Willer, C. J. and Assimes, T. L. and Peloso, G. M.}
}
@article {9263,
	title = {{A saturated map of common genetic variants associated with human height},
	journal = {Nature},
	volume = {610},
	year = {2022},
	month = {Oct},
	pages = {704{\textendash}712},
	abstract = {) account for 40\% (45\%) of phenotypic variance in populations of European ancestry but only around 10-20\% (14-24\%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries.},
	author = {Yengo, L. and Vedantam, S. and Marouli, E. and Sidorenko, J. and Bartell, E. and Sakaue, S. and Graff, M. and Eliasen, A. U. and Jiang, Y. and Raghavan, S. and Miao, J. and Arias, J. D. and Graham, S. E. and Mukamel, R. E. and Spracklen, C. N. and Yin, X. and Chen, S. H. and Ferreira, T. and Highland, H. H. and Ji, Y. and Karaderi, T. and Lin, K. and ll, K. and Malden, D. E. and Medina-Gomez, C. and Machado, M. and Moore, A. and eger, S. and Sim, X. and Vrieze, S. and Ahluwalia, T. S. and Akiyama, M. and Allison, M. A. and Alvarez, M. and Andersen, M. K. and Ani, A. and Appadurai, V. and Arbeeva, L. and Bhaskar, S. and Bielak, L. F. and Bollepalli, S. and Bonnycastle, L. L. and Bork-Jensen, J. and Bradfield, J. P. and Bradford, Y. and Braund, P. S. and Brody, J. A. and Burgdorf, K. S. and Cade, B. E. and Cai, H. and Cai, Q. and Campbell, A. and adas-Garre, M. and Catamo, E. and Chai, J. F. and Chai, X. and Chang, L. C. and Chang, Y. C. and Chen, C. H. and Chesi, A. and Choi, S. H. and Chung, R. H. and Cocca, M. and Concas, M. P. and Couture, C. and Cuellar-Partida, G. and Danning, R. and Daw, E. W. and Degenhard, F. and Delgado, G. E. and Delitala, A. and Demirkan, A. and Deng, X. and Devineni, P. and Dietl, A. and Dimitriou, M. and Dimitrov, L. and Dorajoo, R. and Ekici, A. B. and Engmann, J. E. and Fairhurst-Hunter, Z. and Farmaki, A. E. and Faul, J. D. and Fernandez-Lopez, J. C. and Forer, L. and Francescatto, M. and Freitag-Wolf, S. and Fuchsberger, C. and Galesloot, T. E. and Gao, Y. and Gao, Z. and Geller, F. and Giannakopoulou, O. and Giulianini, F. and Gjesing, A. P. and Goel, A. and Gordon, S. D. and Gorski, M. and Grove, J. and Guo, X. and Gustafsson, S. and Haessler, J. and Hansen, T. F. and Havulinna, A. S. and Haworth, S. J. and He, J. and Heard-Costa, N. and Hebbar, P. and Hindy, G. and Ho, Y. A. and Hofer, E. and Holliday, E. and Horn, K. and Hornsby, W. E. and Hottenga, J. 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}
