@article {8557,
	title = {{Genetic Risk Prediction of Atrial Fibrillation},
	journal = {Circulation},
	volume = {135},
	year = {2017},
	month = {Apr},
	pages = {1311{\textendash}1320},
	abstract = {Atrial fibrillation (AF) has a substantial genetic basis. Identification of individuals at greatest AF risk could minimize the incidence of cardioembolic stroke.\ To determine whether genetic data can stratify risk for development of AF, we examined associations between AF genetic risk scores and incident AF in 5 prospective studies comprising 18 919 individuals of European ancestry. We examined associations between AF genetic risk scores and ischemic stroke in a separate study of 509 ischemic stroke cases (202 cardioembolic [40\%]) and 3028 referents. Scores were based on 11 to 719 common variants ({\^a}{\textperthousand}{\textyen}5\%) associated with AF at P values ranging from <1{\~A}{\textemdash}10-3 to <1{\~A}{\textemdash}10-8 in a prior independent genetic association study.\ Incident AF occurred in 1032 individuals (5.5\%). AF genetic risk scores were associated with new-onset AF after adjustment for clinical risk factors. The pooled hazard ratio for incident AF for the highest versus lowest quartile of genetic risk scores ranged from 1.28 (719 variants; 95\% confidence interval, 1.13-1.46; P=1.5{\~A}{\textemdash}10-4) to 1.67 (25 variants; 95\% confidence interval, 1.47-1.90; P=9.3{\~A}{\textemdash}10-15). Discrimination of combined clinical and genetic risk scores varied across studies and scores (maximum C statistic, 0.629-0.811; maximum {\^I}{\textquotedblright}C statistic from clinical score alone, 0.009-0.017). AF genetic risk was associated with stroke in age- and sex-adjusted models. For example, individuals in the highest versus lowest quartile of a 127-variant score had a 2.49-fold increased odds of cardioembolic stroke (95\% confidence interval, 1.39-4.58; P=2.7{\~A}{\textemdash}10-3). The effect persisted after the exclusion of individuals (n=70) with known AF (odds ratio, 2.25; 95\% confidence interval, 1.20-4.40; P=0.01).\ Comprehensive AF genetic risk scores were associated with incident AF beyond associations for clinical AF risk factors but offered small improvements in discrimination. AF genetic risk was also associated with cardioembolic stroke in age- and sex-adjusted analyses. Efforts are warranted to determine whether AF genetic risk may improve identification of subclinical AF or help distinguish between stroke mechanisms.},
	author = {Lubitz, S. A. and Yin, X. and Lin, H. J. and Kolek, M. and Smith, J. G. and Trompet, S. and Rienstra, M. and Rost, N. S. and Teixeira, P. L. and Almgren, P. and Anderson, C. D. and Chen, L. Y. and Engstr?m, G. and Ford, I. and Furie, K. L. and Guo, X. and Larson, M. G. and Lunetta, K. L. and Macfarlane, P. W. and Psaty, B. M. and Soliman, E. Z. and Sotoodehnia, N. and Stott, D. J. and Taylor, K. D. and Weng, L. C. and Yao, J. and Geelhoed, B. and Verweij, N. and Siland, J. E. and Kathiresan, S. and Roselli, C. and Roden, D. M. and van der Harst, P. and Darbar, D. and Jukema, J. W. and Melander, O. and Rosand, J. and Rotter, J. I. and Heckbert, S. R. and Ellinor, P. T. and Alonso, A. and Benjamin, E. J.}
}
@article {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 {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.}
}
