@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 {8518,
	title = {{Genome-Wide Association Study of Apparent Treatment-Resistant Hypertension in the CHARGE Consortium: The CHARGE Pharmacogenetics Working Group},
	journal = {Am J Hypertens},
	volume = {32},
	year = {2019},
	month = {11},
	pages = {1146{\textendash}1153},
	abstract = {{Only a handful of genetic discovery efforts in apparent treatment-resistant hypertension (aTRH) have been described.\ We conducted a case-control genome-wide association study of aTRH among persons treated for hypertension, using data from 10 cohorts of European ancestry (EA) and 5 cohorts of African ancestry (AA). Cases were treated with 3 different antihypertensive medication classes and had blood pressure (BP) above goal (systolic BP {\^a}{\textperthousand}{\textyen} 140 mm Hg and/or diastolic BP {\^a}{\textperthousand}{\textyen} 90 mm Hg) or 4 or more medication classes regardless of BP control (nEA = 931},
	author = {Irvin, M. R. and Sitlani, C. M. and Floyd, J. S. and Psaty, B. M. and Bis, J. C. and Wiggins, K. L. and Whitsel, E. A. and Sturmer, T. and Stewart, J. and Raffield, L. and Sun, F. and Liu, C. T. and Xu, H. and Cupples, A. L. and Tanner, R. M. and Rossing, P. and Smith, A. and Zilh?o, N. R. and Launer, L. J. and Noordam, R. and Rotter, J. I. and Yao, J. and Li, X. and Guo, X. and Limdi, N. and Sundaresan, A. and Lange, L. and Correa, A. and Stott, D. J. and Ford, I. and Jukema, J. W. and Gudnason, V. and Mook-Kanamori, D. O. and Trompet, S. and Palmas, W. and Warren, H. R. and Hellwege, J. N. and Giri, A. and O{\textquoteright}Donnell, C. and Hung, A. M. and Edwards, T. L. and Ahluwalia, T. S. and Arnett, D. K. and Avery, C. L.}
}
@article {8634,
	title = {{Cerebral small vessel disease genomics and its implications across the lifespan},
	journal = {Nat Commun},
	volume = {11},
	year = {2020},
	month = {12},
	pages = {6285},
	abstract = {White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.5{\~A}{\textemdash}10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volume, notably also in persons without clinical hypertension. Transcriptome-wide colocalization analyses showed association of WMH-volume with expression of 39 genes, of which four encode known drug targets. Finally, we provide insight into BP-independent biological pathways underlying SVD and suggest potential for genetic stratification of high-risk individuals and for genetically-informed prioritization of drug targets for prevention trials.},
	author = {Sargurupremraj, M. and Suzuki, H. and Jian, X. and Sarnowski, C. and Evans, T. E. and Bis, J. C. and Eiriksdottir, G. and Sakaue, S. and Terzikhan, N. and Habes, M. and Zhao, W. and Armstrong, N. J. and Hofer, E. and Yanek, L. R. and Hagenaars, S. P. and Kumar, R. B. and van den Akker, E. B. and McWhirter, R. E. and Trompet, S. and Mishra, A. and Saba, Y. and Satizabal, C. L. and Beaudet, G. and Petit, L. and Tsuchida, A. and Zago, L. and Schilling, S. and Sigurdsson, S. and Gottesman, R. F. and Lewis, C. E. and Aggarwal, N. T. and Lopez, O. L. and Smith, J. A. and Vald?s Hern?ndez, M. C. and van der Grond, J. and Wright, M. J. and Knol, M. J. and D?rr, M. and Thomson, R. J. and Bordes, C. and Le Grand, Q. and Duperron, M. G. and Smith, A. V. and Knopman, D. S. and Schreiner, P. J. and Evans, D. A. and Rotter, J. I. and Beiser, A. S. and Maniega, S. M. and Beekman, M. and Trollor, J. and Stott, D. J. and Vernooij, M. W. and Wittfeld, K. and Niessen, W. J. and Soumar?, A. and Boerwinkle, E. and Sidney, S. and Turner, S. T. and Davies, G. and Thalamuthu, A. and V?lker, U. and van Buchem, M. A. and Bryan, R. N. and Dupuis, J. and Bastin, M. E. and Ames, D. and Teumer, A. and Amouyel, P. and Kwok, J. B. and B?low, R. and Deary, I. J. and Schofield, P. R. and Brodaty, H. and Jiang, J. and Tabara, Y. and Setoh, K. and Miyamoto, S. and Yoshida, K. and Nagata, M. and Kamatani, Y. and Matsuda, F. and Psaty, B. M. and Bennett, D. A. and De Jager, P. L. and Mosley, T. H. and Sachdev, P. S. and Schmidt, R. and Warren, H. R. and Evangelou, E. and Tr?gou?t, D. A. and Ikram, M. A. and Wen, W. and DeCarli, C. and Srikanth, V. K. and Jukema, J. W. and Slagboom, E. P. and Kardia, S. L. R. and Okada, Y. and Mazoyer, B. and Wardlaw, J. M. and Nyquist, P. A. and Mather, K. A. and Grabe, H. J. and Schmidt, H. and van Duijn, C. M. and Gudnason, V. and Longstreth, W. T. and Launer, L. J. and Lathrop, M. and Seshadri, S. and Tzourio, C. and Adams, H. H. and Matthews, P. M. and Fornage, M. and Debette, S. and Amouyel, P. and de Andrade, M. and Basu, S. and Berr, C. and Brody, J. A. and Chasman, D. I. and Dartigues, J. F. and Folsom, A. R. and Germain, M. and de Haan, H. and Heit, J. and Houwing-Duitermaat, J. and Kabrhel, C. and Kraft, P. and Legal, G. and Lindstr?m, S. and Monajemi, R. and Morange, P. E. and Psaty, B. M. and Reitsma, P. H. and Ridker, P. M. and Rose, L. M. and Rosendaal, F. R. and Saut, N. and Slagboom, E. and Smadja, D. and Smith, N. L. and Suchon, P. and Tang, W. and Taylor, K. D. and Tr?gou?t, D. A. and Tzourio, C. and de Visser, M. C. H. and van Hylckama Vlieg, A. and Weng, L. C. and Wiggins, K. L. and Gormley, P. and Anttila, V. and Winsvold, B. S. and Palta, P. and Esko, T. and Pers, T. H. and Farh, K. H. and Cuenca-Leon, E. and Muona, M. and Furlotte, N. A. and Kurth, T. and Ingason, A. and McMahon, G. and Ligthart, L. and Terwindt, G. M. and Kallela, M. and Freilinger, T. M. and Ran, C. and Gordon, S. G. and Stam, A. H. and Steinberg, S. and Borck, G. and Koiranen, M. and Quaye, L. and Adams, H. H. H. and Lehtim?ki, T. and Sarin, A. P. and Wedenoja, J. and Hinds, D. A. and Buring, J. E. and Sch?rks, M. and Ridker, P. M. and Gudlaug Hrafnsdottir, M. and Stefansson, H. and Ring, S. M. and Hottenga, J. J. and Penninx, B. W. J. H. and F?rkkil?, M. and Artto, V. and Kaunisto, M. and Veps?l?inen, S. and Malik, R. and Heath, A. C. and Madden, P. A. F. and Martin, N. G. and Montgomery, G. W. and Kurki, M. and Kals, M. and M?gi, R. and P?rn, K. and H?m?l?inen, E. and Huang, H. and Byrnes, A. E. and Franke, L. and Huang, J. and Stergiakouli, E. and Lee, P. H. and Sandor, C. and Webber, C. and Cader, Z. and Muller-Myhsok, B. and Schreiber, S. and Meitinger, T. and Eriksson, J. G. and Salomaa, V. and Heikkil?, K. and Loehrer, E. and Uitterlinden, A. G. and Hofman, A. and van Duijn, C. M. and Cherkas, L. and Pedersen, L. M. and Stubhaug, A. and Nielsen, C. S. and M?nnikk?, M. and Mihailov, E. and Milani, L. and G?bel, H. and Esserlind, A. L. and Francke Christensen, A. and Folkmann Hansen, T. and Werge, T. and Kaprio, J. and Aromaa, A. J. and Raitakari, O. and Ikram, M. A. and Spector, T. and J?rvelin, M. R. and Metspalu, A. and Kubisch, C. and Strachan, D. P. and Ferrari, M. D. and Belin, A. C. and Dichgans, M. and Wessman, M. and van den Maagdenberg, A. M. J. M. and Zwart, J. A. and Boomsma, D. I. and Davey Smith, G. and Stefansson, K. and Eriksson, N. and Daly, M. J. and Neale, B. M. and Olesen, J. and Chasman, D. I. and Nyholt, D. R. and Palotie, A.}
}
@article {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 {8776,
	title = {{Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation},
	journal = {Blood},
	volume = {137},
	year = {2021},
	month = {Apr},
	pages = {2394{\textendash}2402},
	abstract = {10.1182/blood.2020008997Genetic risk score (GRS) analysis is a popular approach to derive individual risk prediction models for complex diseases. In venous thrombosis (VT), such type of analysis shall integrate information at the ABO blood group locus, which is one of the major susceptibility loci. However, there is no consensus about which single nucleotide polymorphisms (SNPs) must be investigated when properly assessing association between ABO locus and VT risk. Using comprehensive haplotype analyses of ABO blood group tagging SNPs in 5425 cases and 8445 controls from 6 studies, we demonstrate that using only rs8176719 (tagging O1) to correctly assess the impact of ABO locus on VT risk is suboptimal, because 5\% of rs8176719-delG carriers do not have an increased risk of developing VT. Instead, we recommend the use of 4 SNPs, rs2519093 (tagging A1), rs1053878 (A2), rs8176743 (B), and rs41302905 (O2), when assessing the impact of ABO locus on VT risk to avoid any risk misestimation. Compared with the O1 haplotype, the A2 haplotype is associated with a modest increase in VT risk (odds ratio, \~{}1.2), the A1 and B haplotypes are associated with an \~{}1.8-fold increased risk, whereas the O2 haplotype tends to be slightly protective (odds ratio, \~{}0.80). In addition, although the A1 and B blood groups are associated with increased von Willebrand factor and factor VIII plasma levels, only the A1 blood group is associated with ICAM levels, but in an opposite direction, leaving additional avenues to be explored to fully understand the spectrum of biological effects mediated by ABO locus on cardiovascular traits.},
	author = {Goumidi, L. and Thibord, F. and Wiggins, K. L. and Li-Gao, R. and Brown, M. R. and van Hylckama Vlieg, A. and Souto, J. C. and Soria, J. M. and Ibrahim-Kosta, M. and Saut, N. and Daian, D. and Olaso, R. and Amouyel, P. and Debette, S. and Boland, A. and Bailly, P. and Morrison, A. C. and Mook-Kanamori, D. O. and Deleuze, J. F. and Johnson, A. and de Vries, P. S. and Sabater-Lleal, M. and Chiaroni, J. and Smith, N. L. and Rosendaal, F. R. and Chasman, D. I. and Tr{\'e}gou{\"e}t, D. A. and Morange, P. E.}
}
@article {8783,
	title = {{Epigenome-wide association meta-analysis of DNA methylation with coffee and tea consumption},
	journal = {Nat Commun},
	volume = {12},
	year = {2021},
	month = {05},
	pages = {2830},
	abstract = {10.1038/s41467-021-22752-6Coffee and tea are extensively consumed beverages worldwide which have received considerable attention regarding health. Intake of these beverages is consistently linked to, among others, reduced risk of diabetes and liver diseases; however, the mechanisms of action remain elusive. Epigenetics is suggested as a mechanism mediating the effects of dietary and lifestyle factors on disease onset. Here we report the results from epigenome-wide association studies (EWAS) on coffee and tea consumption in 15,789 participants of European and African-American ancestries from 15 cohorts. EWAS meta-analysis of coffee consumption reveals 11 CpGs surpassing the epigenome-wide significance threshold (P-value <1.1{\texttimes}10-7), which annotated to the AHRR, F2RL3, FLJ43663, HDAC4, GFI1 and PHGDH genes. Among them, cg14476101 is significantly associated with expression of the PHGDH and risk of fatty liver disease. Knockdown of PHGDH expression in liver cells shows a correlation with expression levels of genes associated with circulating lipids, suggesting a role of PHGDH in hepatic-lipid metabolism. EWAS meta-analysis on tea consumption reveals no significant association, only two CpGs annotated to CACNA1A and PRDM16 genes show suggestive association (P-value <5.0{\texttimes}10-6). These findings indicate that coffee-associated changes in DNA methylation levels may explain the mechanism of action of coffee consumption in conferring risk of diseases.},
	author = {Karabegovi{\'c}, I. and Portilla-Fernandez, E. and Li, Y. and Ma, J. and Maas, S. C. E. and Sun, D. and Hu, E. A. and K{\"u}hnel, B. and Zhang, Y. and Ambatipudi, S. and Fiorito, G. and Huang, J. and Castillo-Fernandez, J. E. and Wiggins, K. L. and de Klein, N. and Grioni, S. and Swenson, B. R. and Polidoro, S. and Treur, J. L. and Cuenin, C. and Tsai, P. C. and Costeira, R. and Chajes, V. and Braun, K. and Verweij, N. and Kretschmer, A. and Franke, L. and van Meurs, J. B. J. and Uitterlinden, A. G. and de Knegt, R. J. and Ikram, M. A. and Dehghan, A. and Peters, A. and Sch{\"o}ttker, B. and Gharib, S. A. and Sotoodehnia, N. and Bell, J. T. and Elliott, P. and Vineis, P. and Relton, C. and Herceg, Z. and Brenner, H. and Waldenberger, M. and Rebholz, C. M. and Voortman, T. and Pan, Q. and Fornage, M. and Levy, D. and Kayser, M. and Ghanbari, M.}
}
@article {8925,
	title = {{The genomics of heart failure: design and rationale of the HERMES consortium},
	journal = {ESC Heart Fail},
	year = {2021},
	month = {Sep},
	abstract = {The HERMES (HEart failure Molecular Epidemiology for Therapeutic targetS) consortium aims to identify the genomic and molecular basis of heart failure.\ under an additive genetic model.\ HERMES is a global collaboration aiming to (i) identify the genetic determinants of heart failure; (ii) generate insights into the causal pathways leading to heart failure and enable genetic approaches to target prioritization; and (iii) develop genomic tools for disease stratification and risk prediction.},
	author = {Lumbers, R. T. and Shah, S. and Lin, H. and Czuba, T. and Henry, A. and Swerdlow, D. I. and Malarstig, A. and Andersson, C. and Verweij, N. and Holmes, M. V. and {\"A}rnl{\"o}v, J. and Svensson, P. and Hemingway, H. and Sallah, N. and Almgren, P. and Aragam, K. G. and Asselin, G. and Backman, J. D. and Biggs, M. L. and Bloom, H. L. and Boersma, E. and Brandimarto, J. and Brown, M. R. and Brunner-La Rocca, H. P. and Carey, D. J. and Chaffin, M. D. and Chasman, D. I. and Chazara, O. and Chen, X. and Chen, X. and Chung, J. H. and Chutkow, W. and Cleland, J. G. F. and Cook, J. P. and de Denus, S. and Dehghan, A. and Delgado, G. E. and Denaxas, S. and Doney, A. S. and D{\"o}rr, M. and Dudley, S. C. and Engstr{\"o}m, G. and Esko, T. and Fatemifar, G. and Felix, S. B. and Finan, C. and Ford, I. and Fougerousse, F. and Fouodjio, R. and Ghanbari, M. and Ghasemi, S. and Giedraitis, V. and Giulianini, F. and Gottdiener, J. S. and Gross, S. and Gu{\dh}bjartsson, D. F. and Gui, H. and Gutmann, R. and Haggerty, C. M. and van der Harst, P. and Hedman, {\r A}. K. and Helgadottir, A. and Hillege, H. and Hyde, C. L. and Jacob, J. and Jukema, J. W. and Kamanu, F. and Kardys, I. and Kavousi, M. and Khaw, K. T. and Kleber, M. E. and K{\o}ber, L. and Koekemoer, A. and Kraus, B. and Kuchenbaecker, K. and Langenberg, C. and Lind, L. and Lindgren, C. M. and London, B. and Lotta, L. A. and Lovering, R. C. and Luan, J. and Magnusson, P. and Mahajan, A. and Mann, D. and Margulies, K. B. and Marston, N. A. and M{\"a}rz, W. and McMurray, J. J. V. and Melander, O. and Melloni, G. and Mordi, I. R. and Morley, M. P. and Morris, A. D. and Morris, A. P. and Morrison, A. C. and Nagle, M. W. and Nelson, C. P. and Newton-Cheh, C. and Niessner, A. and Niiranen, T. and Nowak, C. and O{\textquoteright}Donoghue, M. L. and Owens, A. T. and Palmer, C. N. A. and Pare, G. and Perola, M. and Perreault, L. L. and Portilla-Fernandez, E. and Psaty, B. M. and Rice, K. M. and Ridker, P. M. and Romaine, S. P. R. and Roselli, C. and Rotter, J. I. and Ruff, C. T. and Sabatine, M. S. and Salo, P. and Salomaa, V. and van Setten, J. and Shalaby, A. A. and Smelser, D. T. and Smith, N. L. and Stefansson, K. and Stender, S. and Stott, D. J. and Sveinbjornsson, G. and Tammesoo, M. L. and Tardif, J. C. and Taylor, K. D. and Teder-Laving, M. and Teumer, A. and Thorgeirsson, G. and Thorsteinsdottir, U. and Torp-Pedersen, C. and Trompet, S. and Tuckwell, D. and Tyl, B. and Uitterlinden, A. G. and Vaura, F. and Veluchamy, A. and Visscher, P. M. and V{\"o}lker, U. and Voors, A. A. and Wang, X. and Wareham, N. J. and Weeke, P. E. and Weiss, R. and White, H. D. and Wiggins, K. L. and Xing, H. and Yang, J. and Yang, Y. and Yerges-Armstrong, L. M. and Yu, B. and Zannad, F. and Zhao, F. and Wilk, J. B. and Holm, H. and Sattar, N. and Lubitz, S. A. and Lanfear, D. E. and Shah, S. and Dunn, M. E. and Wells, Q. S. and Asselbergs, F. W. and Hingorani, A. D. and Dub{\'e}, M. P. and Samani, N. J. and Lang, C. C. and Cappola, T. P. and Ellinor, P. T. and Vasan, R. S. and Smith, J. G.}
}
@article {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 {9263,
	title = {{A saturated map of common genetic variants associated with human height},
	journal = {Nature},
	volume = {610},
	year = {2022},
	month = {Oct},
	pages = {704{\textendash}712},
	abstract = {) account for 40\% (45\%) of phenotypic variance in populations of European ancestry but only around 10-20\% (14-24\%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries.},
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}
@article {8996,
	title = {{Whole-Genome Sequencing Association Analyses of Stroke and Its Subtypes in Ancestrally Diverse Populations From Trans-Omics for Precision Medicine Project},
	journal = {Stroke},
	volume = {53},
	year = {2022},
	month = {Mar},
	pages = {875{\textendash}885},
	abstract = {Stroke is the leading cause of death and long-term disability worldwide. Previous genome-wide association studies identified 51 loci associated with stroke (mostly ischemic) and its subtypes among predominantly European populations. Using whole-genome sequencing in ancestrally diverse populations from the Trans-Omics for Precision Medicine (TOPMed) Program, we aimed to identify novel variants, especially low-frequency or ancestry-specific variants, associated with all stroke, ischemic stroke and its subtypes (large artery, cardioembolic, and small vessel), and hemorrhagic stroke and its subtypes (intracerebral and subarachnoid).\ Whole-genome sequencing data were available for 6833 stroke cases and 27 116 controls, including 22 315 European, 7877 Black, 2616 Hispanic/Latino, 850 Asian, 54 Native American, and 237 other ancestry participants. In TOPMed, we performed single variant association analysis examining 40 million common variants and aggregated association analysis focusing on rare variants. We also combined TOPMed European populations with over 28 000 additional European participants from the UK BioBank genome-wide array data through meta-analysis.\ .\ We represent the first association analysis for stroke and its subtypes using whole-genome sequencing data from ancestrally diverse populations. While our findings suggest the potential benefits of combining whole-genome sequencing data with populations of diverse genetic backgrounds to identify possible low-frequency or ancestry-specific variants, they also highlight the need to increase genome coverage and sample sizes.},
	author = {Hu, Y. and Haessler, J. W. and Manansala, R. and Wiggins, K. L. and Moscati, A. and Beiser, A. and Heard-Costa, N. L. and Sarnowski, C. and Raffield, L. M. and Chung, J. and Marini, S. and Anderson, C. D. and Rosand, J. and Xu, H. and Sun, X. and Kelly, T. N. and Wong, Q. and Lange, L. A. and Rotter, J. I. and Correa, A. and Vasan, R. S. and Seshadri, S. and Rich, S. S. and Do, R. and Loos, R. J. F. and Longstreth, W. T. and Bis, J. C. and Psaty, B. M. and Tirschwell, D. L. and Assimes, T. L. and Silver, B. and Liu, S. and Jackson, R. and Wassertheil-Smoller, S. and Mitchell, B. D. and Fornage, M. and Auer, P. L. and Reiner, A. P. and Kooperberg, C.}
}
