@article {8554,
	title = {{Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits},
	journal = {Nat Commun},
	volume = {8},
	year = {2017},
	month = {04},
	pages = {14977},
	abstract = {Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87\% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.},
	author = {Justice, A. E. and Winkler, T. W. and Feitosa, M. F. and Graff, M. and Fisher, V. A. and Young, K. and Barata, L. and Deng, X. and Czajkowski, J. and Hadley, D. and Ngwa, J. S. and Ahluwalia, T. S. and Chu, A. Y. and Heard-Costa, N. L. and Lim, E. and Perez, J. and Eicher, J. D. and Kutalik, Z. and Xue, L. and Mahajan, A. and Renstr?m, F. and Wu, J. and Qi, Q. and Ahmad, S. and Alfred, T. and Amin, N. and Bielak, L. F. and Bonnefond, A. and Bragg, J. and Cadby, G. and Chittani, M. and Coggeshall, S. and Corre, T. and Direk, N. and Eriksson, J. and Fischer, K. and Gorski, M. and Neergaard Harder, M. and Horikoshi, M. and Huang, T. and Huffman, J. E. and Jackson, A. U. and Justesen, J. M. and Kanoni, S. and Kinnunen, L. and Kleber, M. E. and Komulainen, P. and Kumari, M. and Lim, U. and Luan, J. and Lyytik?inen, L. P. and Mangino, M. and Manichaikul, A. and Marten, J. and Middelberg, R. P. S. and M?ller-Nurasyid, M. and Navarro, P. and P?russe, L. and Pervjakova, N. and Sarti, C. and Smith, A. V. and Smith, J. A. and Stan??kov?, A. and Strawbridge, R. J. and Stringham, H. M. and Sung, Y. J. and Tanaka, T. and Teumer, A. and Trompet, S. and van der Laan, S. W. and van der Most, P. J. and Van Vliet-Ostaptchouk, J. V. and Vedantam, S. L. and Verweij, N. and Vink, J. M. and Vitart, V. and Wu, Y. and Yengo, L. and Zhang, W. and Hua Zhao, J. and Zimmermann, M. E. and Zubair, N. and Abecasis, G. R. and Adair, L. S. and Afaq, S. and Afzal, U. and Bakker, S. J. L. and Bartz, T. M. and Beilby, J. and Bergman, R. N. and Bergmann, S. and Biffar, R. and Blangero, J. and Boerwinkle, E. and Bonnycastle, L. L. and Bottinger, E. and Braga, D. and Buckley, B. M. and Buyske, S. and Campbell, H. and Chambers, J. C. and Collins, F. S. and Curran, J. E. and de Borst, G. J. and de Craen, A. J. M. and de Geus, E. J. C. and Dedoussis, G. and Delgado, G. E. and den Ruijter, H. M. and Eiriksdottir, G. and Eriksson, A. L. and Esko, T. and Faul, J. D. and Ford, I. and Forrester, T. and Gertow, K. and Gigante, B. and Glorioso, N. and Gong, J. and Grallert, H. and Grammer, T. B. and Grarup, N. and Haitjema, S. and Hallmans, G. and Hamsten, A. and Hansen, T. and Harris, T. B. and Hartman, C. A. and Hassinen, M. and Hastie, N. D. and Heath, A. C. and Hernandez, D. and Hindorff, L. and Hocking, L. J. and Hollensted, M. and Holmen, O. L. and Homuth, G. and Jan Hottenga, J. and Huang, J. and Hung, J. and Hutri-K?h?nen, N. and Ingelsson, E. and James, A. L. and Jansson, J. O. and Jarvelin, M. R. and Jhun, M. A. and J?rgensen, M. E. and Juonala, M. and K?h?nen, M. and Karlsson, M. and Koistinen, H. A. and Kolcic, I. and Kolovou, G. and Kooperberg, C. and Kr?mer, B. K. and Kuusisto, J. and Kval?y, K. and Lakka, T. A. and Langenberg, C. and Launer, L. J. and Leander, K. and Lee, N. R. and Lind, L. and Lindgren, C. M. and Linneberg, A. and Lobbens, S. and Loh, M. and Lorentzon, M. and Luben, R. and Lubke, G. and Ludolph-Donislawski, A. and Lupoli, S. and Madden, P. A. F. and M?nnikk?, R. and Marques-Vidal, P. and Martin, N. G. and McKenzie, C. A. and McKnight, B. and Mellstr?m, D. and Menni, C. and Montgomery, G. W. and Musk, A. B. and Narisu, N. and Nauck, M. and Nolte, I. M. and Oldehinkel, A. J. and Olden, M. and Ong, K. K. and Padmanabhan, S. and Peyser, P. A. and Pisinger, C. and Porteous, D. J. and Raitakari, O. T. and Rankinen, T. and Rao, D. C. and Rasmussen-Torvik, L. J. and Rawal, R. and Rice, T. and Ridker, P. M. and Rose, L. M. and Bien, S. A. and Rudan, I. and Sanna, S. and Sarzynski, M. A. and Sattar, N. and Savonen, K. and Schlessinger, D. and Scholtens, S. and Schurmann, C. and Scott, R. A. and Sennblad, B. and Siemelink, M. A. and Silbernagel, G. and Slagboom, P. E. and Snieder, H. and Staessen, J. A. and Stott, D. J. and Swertz, M. A. and Swift, A. J. and Taylor, K. D. and Tayo, B. O. and Thorand, B. and Thuillier, D. and Tuomilehto, J. and Uitterlinden, A. G. and Vandenput, L. and Vohl, M. C. and V?lzke, H. and Vonk, J. M. and Waeber, G. and Waldenberger, M. and Westendorp, R. G. J. and Wild, S. and Willemsen, G. and Wolffenbuttel, B. H. R. and Wong, A. and Wright, A. F. and Zhao, W. and Zillikens, M. C. and Baldassarre, D. and Balkau, B. and Bandinelli, S. and B?ger, C. A. and Boomsma, D. I. and Bouchard, C. and Bruinenberg, M. and Chasman, D. I. and Chen, Y. D. and Chines, P. S. and Cooper, R. S. and Cucca, F. and Cusi, D. and Faire, U. and Ferrucci, L. and Franks, P. W. and Froguel, P. and Gordon-Larsen, P. and Grabe, H. J. and Gudnason, V. and Haiman, C. A. and Hayward, C. and Hveem, K. and Johnson, A. D. and Wouter Jukema, J. and Kardia, S. L. R. and Kivimaki, M. and Kooner, J. S. and Kuh, D. and Laakso, M. and Lehtim?ki, T. and Marchand, L. L. and M?rz, W. and McCarthy, M. I. and Metspalu, A. and Morris, A. P. and Ohlsson, C. and Palmer, L. J. and Pasterkamp, G. and Pedersen, O. and Peters, A. and Peters, U. and Polasek, O. and Psaty, B. M. and Qi, L. and Rauramaa, R. and Smith, B. H. and S?rensen, T. I. A. and Strauch, K. and Tiemeier, H. and Tremoli, E. and van der Harst, P. and Vestergaard, H. and Vollenweider, P. and Wareham, N. J. and Weir, D. R. and Whitfield, J. B. and Wilson, J. F. and Tyrrell, J. and Frayling, T. M. and Barroso, I. and Boehnke, M. and Deloukas, P. and Fox, C. S. and Hirschhorn, J. N. and Hunter, D. J. and Spector, T. D. and Strachan, D. P. and van Duijn, C. M. and Heid, I. M. and Mohlke, K. L. and Marchini, J. and Loos, R. J. F. and Kilpel?inen, T. O. and Liu, C. T. and Borecki, I. B. and North, K. E. and Cupples, L. A.}
}
@article {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 {8452,
	title = {{Genetic Determinants of Electrocardiographic P-wave Duration and Relation to Atrial Fibrillation},
	journal = {Circ Genom Precis Med},
	year = {2020},
	month = {Aug},
	abstract = {Background - The P-wave duration (PWD) is an electrocardiographic (ECG) measurement that represents cardiac conduction in the atria. Shortened or prolonged PWD is associated with atrial fibrillation (AF). We used exome chip data to examine the associations between common and rare variants with PWD. Methods - Fifteen studies comprising 64,440 individuals (56,943 European, 5,681 African, 1,186 Hispanic, 630 Asian), and  230,000 variants were used to examine associations with maximum PWD across the 12-lead ECG. Meta-analyses summarized association results for common variants; gene-based burden and SKAT tests examined low-frequency variant-PWD associations. Additionally, we examined the associations between PWD loci and AF using previous AF GWAS. Results - We identified 21 common and low-frequency genetic loci (14 novel) associated with maximum PWD, including several AF loci (TTN, CAND2, SCN10A, PITX2, CAV1, SYNPO2L, SOX5, TBX5, MYH6, RPL3L). The top variants at known sarcomere genes (TTN, MYH6) were associated with longer PWD and increased AF risk. However, top variants at other loci (e.g., PITX2 and SCN10A) were associated with longer PWD but lower AF risk. Conclusions - Our results highlight multiple novel genetic loci associated with PWD, and underscore the shared mechanisms of atrial conduction and AF. Prolonged PWD may be an endophenotype for several different genetic mechanisms of AF.},
	author = {Weng, L. C. and Hall, A. W. and Choi, S. H. and Jurgens, S. J. and Haessler, J. and Bihlmeyer, N. A. and Grarup, N. and Lin, H. and Teumer, A. and Li-Gao, R. and Yao, J. and Guo, X. and Brody, J. A. and M?ller-Nurasyid, M. and Schramm, K. and Verweij, N. and van den Berg, M. E. and van Setten, J. and Isaacs, A. and Ram?rez, J. and Warren, H. R. and Padmanabhan, S. and Kors, J. A. and de Boer, R. A. and van der Meer, P. and Sinner, M. F. and Waldenberger, M. and Psaty, B. M. and Taylor, K. D. and V?lker, U. and Kanters, J. K. and Li, M. and Alonso, A. and Perez, M. V. and Vaartjes, I. and Bots, M. L. and Huang, P. L. and Heckbert, S. R. and Lin, H. J. and Kornej, J. and Munroe, P. B. and van Duijn, C. M. and Asselbergs, F. W. and Stricker, B. H. and van der Harst, P. and K??b, S. and Peters, A. and Sotoodehnia, N. and Rotter, J. I. and Mook-Kanamori, D. O. and D?rr, M. and Felix, S. B. and Linneberg, A. and Hansen, T. and Arking, D. E. and Kooperberg, C. and Benjamin, E. J. and Lunetta, K. L. and Ellinor, P. T. and Lubitz, S. A.}
}
@article {8454,
	title = {{Genome-Wide Association Study Meta-Analysis of Stroke in 22 000 Individuals of African Descent Identifies Novel Associations With Stroke},
	journal = {Stroke},
	volume = {51},
	year = {2020},
	month = {Aug},
	pages = {2454{\textendash}2463},
	abstract = {Stroke is a complex disease with multiple genetic and environmental risk factors. Blacks endure a nearly 2-fold greater risk of stroke and are 2{\~A}{\textemdash} to 3{\~A}{\textemdash} more likely to die from stroke than European Americans.\ The COMPASS (Consortium of Minority Population Genome-Wide Association Studies of Stroke) has conducted a genome-wide association meta-analysis of stroke in >22 000 individuals of African ancestry (3734 cases, 18 317 controls) from 13 cohorts.\ In meta-analyses, we identified one single nucleotide polymorphism (rs55931441) near the HNF1A gene that reached genome-wide significance (P=4.62{\~A}{\textemdash}10-8) and an additional 29 variants with suggestive evidence of association (P<1{\~A}{\textemdash}10-6), representing 24 unique loci. For validation, a look-up analysis for a 100 kb region flanking the COMPASS single nucleotide polymorphism was performed in SiGN (Stroke Genetics Network) Europeans, SiGN Hispanics, and METASTROKE (Europeans). Using a stringent Bonferroni correction P value of 2.08{\~A}{\textemdash}10-3 (0.05/24 unique loci), we were able to validate associations at the HNF1A locus in both SiGN (P=8.18{\~A}{\textemdash}10-4) and METASTROKE (P=1.72{\~A}{\textemdash}10-3) European populations. Overall, 16 of 24 loci showed evidence for validation across multiple populations. Previous studies have reported associations between variants in the HNF1A gene and lipids, C-reactive protein, and risk of coronary artery disease and stroke. Suggestive associations with variants in the SFXN4 and TMEM108 genes represent potential novel ischemic stroke loci.\ These findings represent the most thorough investigation of genetic determinants of stroke in individuals of African descent, to date.},
	author = {Keene, K. L. and Hyacinth, H. I. and Bis, J. C. and Kittner, S. J. and Mitchell, B. D. and Cheng, Y. C. and Pare, G. and Chong, M. and O{\textquoteright}Donnell, M. and Meschia, J. F. and Chen, W. M. and Sale, M. M. and Rich, S. S. and Nalls, M. A. and Zonderman, A. B. and Evans, M. K. and Wilson, J. G. and Correa, A. and Markus, H. S. and Traylor, M. and Lewis, C. M. and Carty, C. L. and Reiner, A. and Haessler, J. and Langefeld, C. D. and Gottesman, R. and Mosley, T. H. and Woo, D. and Yaffe, K. and Liu, Y. and Longstreth, W. T. and Psaty, B. M. and Kooperberg, C. and Lange, L. A. and Sacco, R. and Rundek, T. and Lee, J. M. and Cruchaga, C. and Furie, K. L. and Arnett, D. K. and Benavente, O. R. and Grewal, R. P. and Peddareddygari, L. R. and Dichgans, M. and Malik, R. and Worrall, B. B. and Fornage, M.}
}
@article {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 {8829,
	title = {{Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis},
	journal = {Circ Genom Precis Med},
	volume = {14},
	year = {2021},
	month = {Aug},
	pages = {e003300},
	abstract = {Alterations in electrocardiographic (ECG) intervals are well-known markers for arrhythmia and sudden cardiac death (SCD) risk. While the genetics of arrhythmia syndromes have been studied, relations between electrocardiographic intervals and rare genetic variation at a population level are poorly understood.\ Using a discovery sample of 29 000 individuals with whole-genome sequencing from Trans-Omics in Precision Medicine and replication in nearly 100 000 with whole-exome sequencing from the UK Biobank and MyCode, we examined associations between low-frequency and rare coding variants with 5 routinely measured electrocardiographic traits (RR, P-wave, PR, and QRS intervals and corrected QT interval).\ ), a marker of SCD risk. Incomplete penetrance of such deleterious variation was common as over 70\% of carriers had normal electrocardiographic intervals.\ Our findings indicate that large-scale high-depth sequence data and electrocardiographic analysis identifies monogenic arrhythmia susceptibility genes and rare variants with large effects. Known pathogenic variation in conventional arrhythmia and SCD genes exhibited incomplete penetrance and accounted for only a small fraction of marked electrocardiographic interval prolongation.},
	author = {Choi, S. H. and Jurgens, S. J. and Haggerty, C. M. and Hall, A. W. and Halford, J. L. and Morrill, V. N. and Weng, L. C. and Lagerman, B. and Mirshahi, T. and Pettinger, M. and Guo, X. and Lin, H. J. and Alonso, A. and Soliman, E. Z. and Kornej, J. and Lin, H. and Moscati, A. and Nadkarni, G. N. and Brody, J. A. and Wiggins, K. L. and Cade, B. E. and Lee, J. and Austin-Tse, C. and Blackwell, T. and Chaffin, M. D. and Lee, C. J. and Rehm, H. L. and Roselli, C. and Redline, S. and Mitchell, B. D. and Sotoodehnia, N. and Psaty, B. M. and Heckbert, S. R. and Loos, R. J. F. and Vasan, R. S. and Benjamin, E. J. and Correa, A. and Boerwinkle, E. and Arking, D. E. and Rotter, J. I. and Rich, S. S. and Whitsel, E. A. and Perez, M. and Kooperberg, C. and Fornwalt, B. K. and Lunetta, K. L. and Ellinor, P. T. and Lubitz, S. A.}
}
@article {9186,
	title = {{Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways},
	journal = {Nat Commun},
	volume = {13},
	year = {2022},
	month = {09},
	pages = {5144},
	abstract = {250,000 individuals) we identify 177, 156 and 121 independent loci for QT, JT and QRS, respectively, including a male-specific X-chromosome locus. Using gene-based rare-variant methods, we identify associations with Mendelian disease genes. Enrichments are observed in established pathways for QT and JT, and previously unreported genes indicated in insulin-receptor signalling and cardiac energy metabolism. In contrast for QRS, connective tissue components and processes for cell growth and extracellular matrix interactions are significantly enriched. We demonstrate polygenic risk score associations with atrial fibrillation, conduction disease and sudden cardiac death. Prioritization of druggable genes highlight potential therapeutic targets for arrhythmia. Together, these results substantially advance our understanding of the genetic architecture of ventricular depolarization and repolarization.},
	author = {Young, W. J. and Lahrouchi, N. and Isaacs, A. and Duong, T. and Foco, L. and Ahmed, F. and Brody, J. A. and Salman, R. and Noordam, R. and Benjamins, J. W. and Haessler, J. and Lyytik{\"a}inen, L. P. and Repetto, L. and Concas, M. P. and van den Berg, M. E. and Weiss, S. and Baldassari, A. R. and Bartz, T. M. and Cook, J. P. and Evans, D. S. and Freudling, R. and Hines, O. and Isaksen, J. L. and Lin, H. and Mei, H. and Moscati, A. and M{\"u}ller-Nurasyid, M. and Nursyifa, C. and Qian, Y. and Richmond, A. and Roselli, C. and Ryan, K. A. and Tarazona-Santos, E. and Th{\'e}riault, S. and van Duijvenboden, S. and Warren, H. R. and Yao, J. and Raza, D. and Aeschbacher, S. and Ahlberg, G. and Alonso, A. and Andreasen, L. and Bis, J. C. and Boerwinkle, E. and Campbell, A. and Catamo, E. and Cocca, M. and Cutler, M. J. and Darbar, D. and De Grandi, A. and De Luca, A. and Ding, J. and Ellervik, C. and Ellinor, P. T. and Felix, S. B. and Froguel, P. and Fuchsberger, C. and G{\"o}gele, M. and Graff, C. and Graff, M. and Guo, X. and Hansen, T. and Heckbert, S. R. and Huang, P. L. and Huikuri, H. V. and Hutri-K{\"a}h{\"o}nen, N. and Ikram, M. A. and Jackson, R. D. and Junttila, J. and Kavousi, M. and Kors, J. A. and Leal, T. P. and Lemaitre, R. N. and Lin, H. J. and Lind, L. and Linneberg, A. and Liu, S. and Macfarlane, P. W. and Mangino, M. and Meitinger, T. and Mezzavilla, M. and Mishra, P. P. and Mitchell, R. N. and Mononen, N. and Montasser, M. E. and Morrison, A. C. and Nauck, M. and Nauffal, V. and Navarro, P. and Nikus, K. and Pare, G. and Patton, K. K. and Pelliccione, G. and Pittman, A. and Porteous, D. J. and Pramstaller, P. P. and Preuss, M. H. and Raitakari, O. T. and Reiner, A. P. and Ribeiro, A. L. P. and Rice, K. M. and Risch, L. and Schlessinger, D. and Schotten, U. and Schurmann, C. and Shen, X. and Shoemaker, M. B. and Sinagra, G. and Sinner, M. F. and Soliman, E. Z. and Stoll, M. and Strauch, K. and Tarasov, K. and Taylor, K. D. and Tinker, A. and Trompet, S. and Uitterlinden, A. and V{\"o}lker, U. and V{\"o}lzke, H. and Waldenberger, M. and Weng, L. C. and Whitsel, E. A. and Wilson, J. G. and Avery, C. L. and Conen, D. and Correa, A. and Cucca, F. and D{\"o}rr, M. and Gharib, S. A. and Girotto, G. and Grarup, N. and Hayward, C. and Jamshidi, Y. and Jarvelin, M. R. and Jukema, J. W. and K{\"a}{\"a}b, S. and K{\"a}h{\"o}nen, M. and Kanters, J. K. and Kooperberg, C. and Lehtim{\"a}ki, T. and Lima-Costa, M. F. and Liu, Y. and Loos, R. J. F. and Lubitz, S. A. and Mook-Kanamori, D. O. and Morris, A. P. and O{\textquoteright}Connell, J. R. and Olesen, M. S. and Orini, M. and Padmanabhan, S. and Pattaro, C. and Peters, A. and Psaty, B. M. and Rotter, J. I. and Stricker, B. and van der Harst, P. and van Duijn, C. M. and Verweij, N. and Wilson, J. F. and Arking, D. E. and Ramirez, J. and Lambiase, P. D. and Sotoodehnia, N. and Mifsud, B. and Newton-Cheh, C. and Munroe, P. B.}
}
@article {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. 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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. J. and Huang, H. and Huang, J. and Huerta-Chagoya, A. and Huffman, J. E. and Hung, Y. J. and Huo, S. and Hwang, M. Y. and Iha, H. and Ikeda, D. D. and Isono, M. and Jackson, A. U. and ger, S. and Jansen, I. E. and Johansson, I. and Jonas, J. B. and Jonsson, A. and rgensen, T. and Kalafati, I. P. and Kanai, M. and Kanoni, S. and rhus, L. L. and Kasturiratne, A. and Katsuya, T. and Kawaguchi, T. and Kember, R. L. and Kentistou, K. A. and Kim, H. N. and Kim, Y. J. and Kleber, M. E. and Knol, M. J. and Kurbasic, A. and Lauzon, M. and Le, P. and Lea, R. and Lee, J. Y. and Leonard, H. L. and Li, S. A. and Li, X. and Li, X. and Liang, J. and Lin, H. and Lin, S. Y. and Liu, J. and Liu, X. and Lo, K. S. and Long, J. and Lor{\'e}s-Motta, L. and Luan, J. and Lyssenko, V. and inen, L. P. and Mahajan, A. and Mamakou, V. and Mangino, M. and Manichaikul, A. and Marten, J. and Mattheisen, M. and Mavarani, L. and McDaid, A. F. and Meidtner, K. and Melendez, T. L. and Mercader, J. 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C. and Sun, Y. and Croteau-Chonka, D. and Vonk, J. M. and Chanock, S. and Le Marchand, L.}
}
@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.}
}
@article {9644,
	title = {{A genetic association study of circulating coagulation Factor VIII and von Willebrand Factor levels},
	journal = {Blood},
	year = {2024},
	month = {Feb},
	abstract = {10-9) at seven new loci for FVIII (ST3GAL4, CLEC4M, B3GNT2, ASGR1, F12, KNG1, and TREM1/NCR2) and one for VWF (B3GNT2). VWF, ABO, and STAB2 were associated with FVIII and VWF in gene-based analyses. Multi-phenotype analysis of FVIII and VWF identified another three new loci, including PDIA3. Silencing of B3GNT2 and the previously reported CD36 gene decreased release of FVIII by HLECs, while silencing of B3GNT2, CD36, and PDIA3 decreased release of VWF by HVECs. Mendelian randomization supports causal association of higher FVIII and VWF with increased risk of thrombotic outcomes. Seven new loci were identified for FVIII and one for VWF, with evidence supporting causal associations of FVIII and VWF with thrombotic outcomes. B3GNT2, CD36, and PDIA3 modulate the release of FVIII and/or VWF in vitro.},
	author = {de Vries, P. S. and Reventun, P. and Brown, M. R. and Heath, A. S. and Huffman, J. E. and Le, N. Q. and Bebo, A. and Brody, J. A. and Temprano-Sagrera, G. and Raffield, L. M. and Ozel, A. B. and Thibord, F. and Jain, D. and Lewis, J. P. and Rodriguez, B. A. T. and Pankratz, N. and Taylor, K. D. and Polasek, O. and Chen, M. H. and Yanek, L. R. and Carrasquilla, G. D. and Marioni, R. and Kleber, M. E. and t, D. A. and Yao, J. and Li-Gao, R. and Joshi, P. K. and Trompet, S. and Martinez-Perez, A. and Ghanbari, M. and Howard, T. E. and Reiner, A. P. and Arvanitis, M. and Ryan, K. A. and Bartz, T. M. and Rudan, I. and Faraday, N. and Linneberg, A. and Ekunwe, L. and Davies, G. and Delgado, G. E. and Suchon, P. and Guo, X. and Rosendaal, F. R. and Klaric, L. and Noordam, R. and van Rooij, F. and Curran, J. E. and Wheeler, M. M. and Osburn, W. O. and O{\textquoteright}Connell, J. R. and Boerwinkle, E. and Beswick, A. and Psaty, B. M. and Kolcic, I. and Souto, J. C. and Becker, L. C. and Hansen, T. and Doyle, M. F. and Harris, S. E. and Moissl, A. P. and Deleuze, J. F. and Rich, S. S. and van Hylckama Vlieg, A. and Campbell, H. and Stott, D. J. and Soria, J. M. and de Maat, M. P. M. and Almasy, L. and Brody, L. C. and Auer, P. L. and Mitchell, B. D. and Ben-Shlomo, Y. and Fornage, M. and Hayward, C. and Mathias, R. A. and inen, T. O. and Lange, L. A. and Cox, S. R. and rz, W. and Morange, P. E. and Rotter, J. I. and Mook-Kanamori, D. O. and Wilson, J. F. and van der Harst, P. and Jukema, J. W. and Ikram, M. A. and Blangero, J. and Kooperberg, C. and Desch, K. C. and Johnson, A. D. and Sabater-Lleal, M. and Lowenstein, C. J. and Smith, N. L. and Morrison, A. C.}
}
