@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 {8515,
	title = {{Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls},
	journal = {Nature},
	volume = {570},
	year = {2019},
	month = {06},
	pages = {71{\textendash}76},
	abstract = {Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and 24,440 non-diabetic control participants from 5 ancestries. We identify gene-level associations of rare variants (with minor allele frequencies of less than 0.5\%) in 4 genes at exome-wide significance, including a series of more than 30 SLC30A8 alleles that conveys protection against T2D, and in 12 gene sets, including those corresponding to T2D drug targets (P = 6.1 {\~A}{\textemdash} 10-3) and candidate genes from knockout mice (P = 5.2 {\~A}{\textemdash} 10-3). Within our study, the strongest T2D gene-level signals for rare variants explain at most 25\% of the heritability of the strongest common single-variant signals, and the gene-level effect sizes of the rare variants that we observed in established T2D drug targets will require 75,000-185,000 sequenced cases to achieve exome-wide significance. We propose a method to interpret these modest rare-variant associations and to incorporate these associations into future target or gene prioritization efforts.},
	author = {Flannick, J. and Mercader, J. M. and Fuchsberger, C. and Udler, M. S. and Mahajan, A. and Wessel, J. and Teslovich, T. M. and Caulkins, L. and Koesterer, R. and Barajas-Olmos, F. and Blackwell, T. W. and Boerwinkle, E. and Brody, J. A. and Centeno-Cruz, F. and Chen, L. and Chen, S. and Contreras-Cubas, C. and C?rdova, E. and Correa, A. and Cortes, M. and DeFronzo, R. A. and Dolan, L. and Drews, K. L. and Elliott, A. and Floyd, J. S. and Gabriel, S. and Garay-Sevilla, M. E. and Garc?a-Ortiz, H. and Gross, M. and Han, S. and Heard-Costa, N. L. and Jackson, A. U. and J?rgensen, M. E. and Kang, H. M. and Kelsey, M. and Kim, B. J. and Koistinen, H. A. and Kuusisto, J. and Leader, J. B. and Linneberg, A. and Liu, C. T. and Liu, J. and Lyssenko, V. and Manning, A. K. and Marcketta, A. and Malacara-Hernandez, J. M. and Mart?nez-Hern?ndez, A. and Matsuo, K. and Mayer-Davis, E. and Mendoza-Caamal, E. and Mohlke, K. L. and Morrison, A. C. and Ndungu, A. and Ng, M. C. Y. and O{\textquoteright}Dushlaine, C. and Payne, A. J. and Pihoker, C. and Post, W. S. and Preuss, M. and Psaty, B. M. and Vasan, R. S. and Rayner, N. W. and Reiner, A. P. and Revilla-Monsalve, C. and Robertson, N. R. and Santoro, N. and Schurmann, C. and So, W. Y. and Sober?n, X. and Stringham, H. M. and Strom, T. M. and Tam, C. H. T. and Thameem, F. and Tomlinson, B. and Torres, J. M. and Tracy, R. P. and van Dam, R. M. and Vujkovic, M. and Wang, S. and Welch, R. P. and Witte, D. R. and Wong, T. Y. and Atzmon, G. and Barzilai, N. and Blangero, J. and Bonnycastle, L. L. and Bowden, D. W. and Chambers, J. C. and Chan, E. and Cheng, C. Y. and Cho, Y. S. and Collins, F. S. and de Vries, P. S. and Duggirala, R. and Glaser, B. and Gonzalez, C. and Gonzalez, M. E. and Groop, L. and Kooner, J. S. and Kwak, S. H. and Laakso, M. and Lehman, D. M. and Nilsson, P. and Spector, T. D. and Tai, E. S. and Tuomi, T. and Tuomilehto, J. and Wilson, J. G. and Aguilar-Salinas, C. A. and Bottinger, E. and Burke, B. and Carey, D. J. and Chan, J. C. N. and Dupuis, J. and Frossard, P. and Heckbert, S. R. and Hwang, M. Y. and Kim, Y. J. and Kirchner, H. L. and Lee, J. Y. and Lee, J. and Loos, R. J. F. and Ma, R. C. W. and Morris, A. D. and O{\textquoteright}Donnell, C. J. and Palmer, C. N. A. and Pankow, J. and Park, K. S. and Rasheed, A. and Saleheen, D. and Sim, X. and Small, K. S. and Teo, Y. Y. and Haiman, C. and Hanis, C. L. and Henderson, B. E. and Orozco, L. and Tusi?-Luna, T. and Dewey, F. E. and Baras, A. and Gieger, C. and Meitinger, T. and Strauch, K. and Lange, L. and Grarup, N. and Hansen, T. and Pedersen, O. and Zeitler, P. and Dabelea, D. and Abecasis, G. and Bell, G. I. and Cox, N. J. and Seielstad, M. and Sladek, R. and Meigs, J. B. and Rich, S. S. and Rotter, J. I. and Altshuler, D. and Burtt, N. P. and Scott, L. J. and Morris, A. P. and Florez, J. C. and McCarthy, M. I. and Boehnke, M.}
}
@article {9374,
	title = {{Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology},
	journal = {Am J Hum Genet},
	volume = {105},
	year = {2019},
	month = {Jul},
	pages = {15{\textendash}28},
	abstract = {) with at least one obesity or lipid trait. Candidate genes include PRKAR2A, PTH1R, and HDAC9, which have been suggested to play roles in adipocyte differentiation or bone marrow adipose tissue. Taken together, these findings provide further insights into the processes that influence circulating adiponectin levels.},
	author = {Spracklen, C. N. and Karaderi, T. and Yaghootkar, H. and Schurmann, C. and Fine, R. S. and Kutalik, Z. and Preuss, M. H. and Lu, Y. and Wittemans, L. B. L. and Adair, L. S. and Allison, M. and Amin, N. and Auer, P. L. and Bartz, T. M. and her, M. and Boehnke, M. and Borja, J. B. and Bork-Jensen, J. and Broer, L. and Chasman, D. I. and Chen, Y. I. and Chirstofidou, P. and Demirkan, A. and van Duijn, C. M. and Feitosa, M. F. and Garcia, M. E. and Graff, M. and Grallert, H. and Grarup, N. and Guo, X. and Haesser, J. and Hansen, T. and Harris, T. B. and Highland, H. M. and Hong, J. and Ikram, M. A. and Ingelsson, E. and Jackson, R. and Jousilahti, P. and nen, M. and Kizer, J. R. and Kovacs, P. and Kriebel, J. and Laakso, M. and Lange, L. A. and ki, T. and Li, J. and Li-Gao, R. and Lind, L. and Luan, J. and inen, L. P. and MacGregor, S. and Mackey, D. A. and Mahajan, A. and Mangino, M. and {\"o}, S. and McCarthy, M. I. and McKnight, B. and Medina-Gomez, C. and Meigs, J. B. and Molnos, S. and Mook-Kanamori, D. and Morris, A. P. and de Mutsert, R. and Nalls, M. A. and Nedeljkovic, I. and North, K. E. and Pennell, C. E. and Pradhan, A. D. and Province, M. A. and Raitakari, O. T. and Raulerson, C. K. and Reiner, A. P. and Ridker, P. M. and Ripatti, S. and Roberston, N. and Rotter, J. I. and Salomaa, V. and rate, A. A. and Sitlani, C. M. and Spector, T. D. and Strauch, K. and Stumvoll, M. and Taylor, K. D. and Thuesen, B. and njes, A. and Uitterlinden, A. G. and Venturini, C. and Walker, M. and Wang, C. A. and Wang, S. and Wareham, N. J. and Willems, S. M. and Willems van Dijk, K. and Wilson, J. G. and Wu, Y. and Yao, J. and Young, K. L. and Langenberg, C. and Frayling, T. M. and inen, T. O. and Lindgren, C. M. and Loos, R. J. F. and Mohlke, K. L.}
}
@article {9391,
	title = {{Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology},
	journal = {Am J Hum Genet},
	volume = {105},
	year = {2019},
	month = {Sep},
	pages = {670{\textendash}671},
	author = {Spracklen, C. N. and Karaderi, T. and Yaghootkar, H. and Schurmann, C. and Fine, R. S. and Kutalik, Z. and Preuss, M. H. and Lu, Y. and Wittemans, L. B. L. and Adair, L. S. and Allison, M. and Amin, N. and Auer, P. L. and Bartz, T. M. and her, M. and Boehnke, M. and Borja, J. B. and Bork-Jensen, J. and Broer, L. and Chasman, D. I. and Chen, Y. I. and Chirstofidou, P. and Demirkan, A. and van Duijn, C. M. and Feitosa, M. F. and Garcia, M. E. and Graff, M. and Grallert, H. and Grarup, N. and Guo, X. and Haesser, J. and Hansen, T. and Harris, T. B. and Highland, H. M. and Hong, J. and Ikram, M. A. and Ingelsson, E. and Jackson, R. and Jousilahti, P. and nen, M. and Kizer, J. R. and Kovacs, P. and Kriebel, J. and Laakso, M. and Lange, L. A. and ki, T. and Li, J. and Li-Gao, R. and Lind, L. and Luan, J. and inen, L. P. and MacGregor, S. and Mackey, D. A. and Mahajan, A. and Mangino, M. and {\"o}, S. and McCarthy, M. I. and McKnight, B. and Medina-Gomez, C. and Meigs, J. B. and Molnos, S. and Mook-Kanamori, D. and Morris, A. P. and de Mutsert, R. and Nalls, M. A. and Nedeljkovic, I. and North, K. E. and Pennell, C. E. and Pradhan, A. D. and Province, M. A. and Raitakari, O. T. and Raulerson, C. K. and Reiner, A. P. and Ridker, P. M. and Ripatti, S. and Roberston, N. and Rotter, J. I. and Salomaa, V. and rate, A. A. and Sitlani, C. M. and Spector, T. D. and Strauch, K. and Stumvoll, M. and Taylor, K. D. and Thuesen, B. and njes, A. and Uitterlinden, A. G. and Venturini, C. and Walker, M. and Wang, C. A. and Wang, S. and Wareham, N. J. and Willems, S. M. and Willems van Dijk, K. and Wilson, J. G. and Wu, Y. and Yao, J. and Young, K. L. and Langenberg, C. and Frayling, T. M. and inen, T. O. and Lindgren, C. M. and Loos, R. J. F. and Mohlke, K. L.}
}
@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 {8772,
	title = {{The trans-ancestral genomic architecture of glycemic traits},
	journal = {Nat Genet},
	volume = {53},
	year = {2021},
	month = {06},
	pages = {840{\textendash}860},
	abstract = {10.1038/s41588-021-00852-9Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on individuals of European ancestry. Here we aggregated genome-wide association studies comprising up to 281,416 individuals without diabetes (30\% non-European ancestry) for whom fasting glucose, 2-h glucose after an oral glucose challenge, glycated hemoglobin and fasting insulin data were available. Trans-ancestry and single-ancestry meta-analyses identified 242 loci (99 novel; P < 5 {\texttimes} 10-8), 80\% of which had no significant evidence of between-ancestry heterogeneity. Analyses restricted to individuals of European ancestry with equivalent sample size would have led to 24 fewer new loci. Compared with single-ancestry analyses, equivalent-sized trans-ancestry fine-mapping reduced the number of estimated variants in 99\% credible sets by a median of 37.5\%. Genomic-feature, gene-expression and gene-set analyses revealed distinct biological signatures for each trait, highlighting different underlying biological pathways. Our results increase our understanding of diabetes pathophysiology by using trans-ancestry studies for improved power and resolution.},
	author = {Chen, J. and Spracklen, C. N. and Marenne, G. and Varshney, A. and Corbin, L. J. and Luan, J. and Willems, S. M. and Wu, Y. and Zhang, X. and Horikoshi, M. and Boutin, T. S. and M{\"a}gi, R. and Waage, J. and Li-Gao, R. and Chan, K. H. K. and Yao, J. and Anasanti, M. D. and Chu, A. Y. and Claringbould, A. and Heikkinen, J. and Hong, J. and Hottenga, J. J. and Huo, S. and Kaakinen, M. A. and Louie, T. and M{\"a}rz, W. and Moreno-Macias, H. and Ndungu, A. and Nelson, S. C. and Nolte, I. M. and North, K. E. and Raulerson, C. K. and Ray, D. and Rohde, R. and Rybin, D. and Schurmann, C. and Sim, X. and Southam, L. and Stewart, I. D. and Wang, C. A. and Wang, Y. and Wu, P. and Zhang, W. and Ahluwalia, T. S. and Appel, E. V. R. and Bielak, L. F. and Brody, J. A. and Burtt, N. P. and Cabrera, C. P. and Cade, B. E. and Chai, J. F. and Chai, X. and Chang, L. C. and Chen, C. H. and Chen, B. H. and Chitrala, K. N. and Chiu, Y. F. and de Haan, H. G. and Delgado, G. E. and Demirkan, A. and Duan, Q. and Engmann, J. and Fatumo, S. A. and Gay{\'a}n, J. and Giulianini, F. and Gong, J. H. and Gustafsson, S. and Hai, Y. and Hartwig, F. P. and He, J. and Heianza, Y. and Huang, T. and Huerta-Chagoya, A. and Hwang, M. Y. and Jensen, R. A. and Kawaguchi, T. and Kentistou, K. A. and Kim, Y. J. and Kleber, M. E. and Kooner, I. K. and Lai, S. and Lange, L. A. and Langefeld, C. D. and Lauzon, M. and Li, M. and Ligthart, S. and Liu, J. and Loh, M. and Long, J. and Lyssenko, V. and Mangino, M. and Marzi, C. and Montasser, M. E. and Nag, A. and Nakatochi, M. and Noce, D. and Noordam, R. and Pistis, G. and Preuss, M. and Raffield, L. and Rasmussen-Torvik, L. J. and Rich, S. S. and Robertson, N. R. and Rueedi, R. and Ryan, K. and Sanna, S. and Saxena, R. and Schraut, K. E. and Sennblad, B. and Setoh, K. and Smith, A. V. and Spars{\o}, T. and Strawbridge, R. J. and Takeuchi, F. and Tan, J. and Trompet, S. and van den Akker, E. and van der Most, P. J. and Verweij, N. and Vogel, M. and Wang, H. and Wang, C. and Wang, N. and Warren, H. R. and Wen, W. and Wilsgaard, T. and Wong, A. and Wood, A. R. and Xie, T. and Zafarmand, M. H. and Zhao, J. H. and Zhao, W. and Amin, N. and Arzumanyan, Z. and Astrup, A. and Bakker, S. J. L. and Baldassarre, D. and Beekman, M. and Bergman, R. N. and Bertoni, A. and Bl{\"u}her, M. and Bonnycastle, L. L. and Bornstein, S. R. and Bowden, D. W. and Cai, Q. and Campbell, A. and Campbell, H. and Chang, Y. C. and de Geus, E. J. C. and Dehghan, A. and Du, S. and Eiriksdottir, G. and Farmaki, A. E. and Fr{\r a}nberg, M. and Fuchsberger, C. and Gao, Y. and Gjesing, A. P. and Goel, A. and Han, S. and Hartman, C. A. and Herder, C. and Hicks, A. A. and Hsieh, C. H. and Hsueh, W. A. and Ichihara, S. and Igase, M. and Ikram, M. A. and Johnson, W. C. and J{\o}rgensen, M. E. and Joshi, P. K. and Kalyani, R. R. and Kandeel, F. R. and Katsuya, T. and Khor, C. C. and Kiess, W. and Kolcic, I. and Kuulasmaa, T. and Kuusisto, J. and L{\"a}ll, K. and Lam, K. and Lawlor, D. A. and Lee, N. R. and Lemaitre, R. N. and Li, H. and Lin, S. Y. and Lindstr{\"o}m, J. and Linneberg, A. and Liu, J. and Lorenzo, C. and Matsubara, T. and Matsuda, F. and Mingrone, G. and Mooijaart, S. and Moon, S. and Nabika, T. and Nadkarni, G. N. and Nadler, J. L. and Nelis, M. and Neville, M. J. and Norris, J. M. and Ohyagi, Y. and Peters, A. and Peyser, P. A. and Polasek, O. and Qi, Q. and Raven, D. and Reilly, D. F. and Reiner, A. and Rivideneira, F. and Roll, K. and Rudan, I. and Sabanayagam, C. and Sandow, K. and Sattar, N. and Sch{\"u}rmann, A. and Shi, J. and Stringham, H. M. and Taylor, K. D. and Teslovich, T. M. and Thuesen, B. and Timmers, P. R. H. J. and Tremoli, E. and Tsai, M. Y. and Uitterlinden, A. and van Dam, R. M. and van Heemst, D. and van Hylckama Vlieg, A. and Van Vliet-Ostaptchouk, J. V. and Vangipurapu, J. and Vestergaard, H. and Wang, T. and Willems van Dijk, K. and Zemunik, T. and Abecasis, G. R. and Adair, L. S. and Aguilar-Salinas, C. A. and Alarc{\'o}n-Riquelme, M. E. and An, P. and Aviles-Santa, L. and Becker, D. M. and Beilin, L. J. and Bergmann, S. and Bisgaard, H. and Black, C. and Boehnke, M. and Boerwinkle, E. and B{\"o}hm, B. O. and B{\o}nnelykke, K. and Boomsma, D. I. and Bottinger, E. P. and Buchanan, T. A. and Canouil, M. and Caulfield, M. J. and Chambers, J. C. and Chasman, D. I. and Chen, Y. I. and Cheng, C. Y. and Collins, F. S. and Correa, A. and Cucca, F. and de Silva, H. J. and Dedoussis, G. and Elmst{\r a}hl, S. and Evans, M. K. and Ferrannini, E. and Ferrucci, L. and Florez, J. C. and Franks, P. W. and Frayling, T. M. and Froguel, P. and Gigante, B. and Goodarzi, M. 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D. and Pedersen, O. and Pennell, C. E. and Porteous, D. J. and Pramstaller, P. P. and Province, M. A. and Psaty, B. M. and Qi, L. and Raffel, L. J. and Rauramaa, R. and Redline, S. and Ridker, P. M. and Rosendaal, F. R. and Saaristo, T. E. and Sandhu, M. and Saramies, J. and Schneiderman, N. and Schwarz, P. and Scott, L. J. and Selvin, E. and Sever, P. and Shu, X. O. and Slagboom, P. E. and Small, K. S. and Smith, B. H. and Snieder, H. and Sofer, T. and S{\o}rensen, T. I. A. and Spector, T. D. and Stanton, A. and Steves, C. J. and Stumvoll, M. and Sun, L. and Tabara, Y. and Tai, E. S. and Timpson, N. J. and Tonjes, A. and Tuomilehto, J. and Tusie, T. and Uusitupa, M. and van der Harst, P. and van Duijn, C. and Vitart, V. and Vollenweider, P. and Vrijkotte, T. G. M. and Wagenknecht, L. E. and Walker, M. and Wang, Y. X. and Wareham, N. J. and Watanabe, R. M. and Watkins, H. and Wei, W. B. and Wickremasinghe, A. R. and Willemsen, G. and Wilson, J. F. and Wong, T. Y. and Wu, J. Y. and Xiang, A. H. and Yanek, L. R. and Yengo, L. and Yokota, M. and Zeggini, E. and Zheng, W. and Zonderman, A. B. and Rotter, J. I. and Gloyn, A. L. and McCarthy, M. I. and Dupuis, J. and Meigs, J. B. and Scott, R. A. and Prokopenko, I. and Leong, A. and Liu, C. T. and Parker, S. C. J. and Mohlke, K. L. and Langenberg, C. and Wheeler, E. and Morris, A. P. and Barroso, I. and de Haan, H. G. and van den Akker, E. and van der Most, P. J. and de Geus, E. J. C. and van Dam, R. M. and van Heemst, D. and van Hylckama Vlieg, A. and van Willems van Dijk, K. and de Silva, H. J. and van der Harst, P. and van Duijn, C.}
}
@article {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.}
}
