@article {8560,
	title = {{Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk},
	journal = {Nat Genet},
	volume = {49},
	year = {2017},
	month = {Mar},
	pages = {403{\textendash}415},
	abstract = {Elevated blood pressure is the leading heritable risk factor for cardiovascular disease worldwide. We report genetic association of blood pressure (systolic, diastolic, pulse pressure) among UK Biobank participants of European ancestry with independent replication in other cohorts, and robust validation of 107 independent loci. We also identify new independent variants at 11 previously reported blood pressure loci. In combination with results from a range of in silico functional analyses and wet bench experiments, our findings highlight new biological pathways for blood pressure regulation enriched for genes expressed in vascular tissues and identify potential therapeutic targets for hypertension. Results from genetic risk score models raise the possibility of a precision medicine approach through early lifestyle intervention to offset the impact of blood pressure-raising genetic variants on future cardiovascular disease risk.},
	author = {Warren, H. R. and Evangelou, E. and Cabrera, C. P. and Gao, H. and Ren, M. and Mifsud, B. and Ntalla, I. and Surendran, P. and Liu, C. and Cook, J. P. and Kraja, A. T. and Drenos, F. and Loh, M. and Verweij, N. and Marten, J. and Karaman, I. and Lepe, M. P. and O{\textquoteright}Reilly, P. F. and Knight, J. and Snieder, H. and Kato, N. and He, J. and Tai, E. S. and Said, M. A. and Porteous, D. and Alver, M. and Poulter, N. and Farrall, M. and Gansevoort, R. T. and Padmanabhan, S. and M?gi, R. and Stanton, A. and Connell, J. and Bakker, S. J. and Metspalu, A. and Shields, D. C. and Thom, S. and Brown, M. and Sever, P. and Esko, T. and Hayward, C. and van der Harst, P. and Saleheen, D. and Chowdhury, R. and Chambers, J. C. and Chasman, D. I. and Chakravarti, A. and Newton-Cheh, C. and Lindgren, C. M. and Levy, D. and Kooner, J. S. and Keavney, B. and Tomaszewski, M. and Samani, N. J. and Howson, J. M. and Tobin, M. D. and Munroe, P. B. and Ehret, G. B. and Wain, L. V. and V?lker, U. and Vollenweider, P. and Wild, S. and Willemsen, G. and Wright, A. F. and Yao, J. and Th?riault, S. and Conen, D. and John, A. and Sever, P. and Debette, S. and Mook-Kanamori, D. O. and Zeggini, E. and Spector, T. D. and van der Harst, P. and Palmer, C. N. and Vergnaud, A. C. and Loos, R. J. and Polasek, O. and Starr, J. M. and Girotto, G. and Hayward, C. and Kooner, J. S. and Lindgren, C. M. and Vitart, V. and Samani, N. J. and Tuomilehto, J. and Gyllensten, U. and Knekt, P. and Deary, I. J. and Ciullo, M. and Elosua, R. and Keavney, B. D. and Hicks, A. A. and Scott, R. A. and Gasparini, P. and Laan, M. and Liu, Y. and Watkins, H. and Hartman, C. A. and Salomaa, V. and Toniolo, D. and Perola, M. and Wilson, J. F. and Schmidt, H. and Zhao, J. H. and Lehtim?ki, T. and van Duijn, C. M. and Gudnason, V. and Psaty, B. M. and Peters, A. and Rettig, R. and James, A. and Jukema, J. W. and Strachan, D. P. and Palmas, W. and Metspalu, A. and Ingelsson, E. and Boomsma, D. I. and Franco, O. H. and Bochud, M. and Newton-Cheh, C. and Munroe, P. B. and Elliott, P. and Chasman, D. I. and Chakravarti, A. and Knight, J. and Morris, A. P. and Levy, D. and Tobin, M. D. and Snieder, H. and Caulfield, M. J. and Ehret, G. B. and Barnes, M. R. and Tzoulaki, I. and Caulfield, M. J. and Elliott, P.}
}
@article {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 {8530,
	title = {{Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria},
	journal = {Nat Commun},
	volume = {10},
	year = {2019},
	month = {09},
	pages = {4130},
	abstract = {Increased levels of the urinary albumin-to-creatinine ratio (UACR) are associated with higher risk of kidney disease progression and cardiovascular events, but underlying mechanisms are incompletely understood. Here, we conduct trans-ethnic (n = 564,257) and European-ancestry specific meta-analyses of genome-wide association studies of UACR, including ancestry- and diabetes-specific analyses, and identify 68 UACR-associated loci. Genetic correlation analyses and risk score associations in an independent electronic medical records database (n = 192,868) reveal connections with proteinuria, hyperlipidemia, gout, and hypertension. Fine-mapping and trans-Omics analyses with gene expression in 47 tissues and plasma protein levels implicate genes potentially operating through differential expression in kidney (including TGFB1, MUC1, PRKCI, and OAF), and allow coupling of UACR associations to altered plasma OAF concentrations. Knockdown of OAF and PRKCI orthologs in Drosophila nephrocytes reduces albumin endocytosis. Silencing fly PRKCI further impairs slit diaphragm formation. These results generate a priority list of genes and pathways for translational research to reduce albuminuria.},
	author = {Teumer, A. and Li, Y. and Ghasemi, S. and Prins, B. P. and Wuttke, M. and Hermle, T. and Giri, A. and Sieber, K. B. and Qiu, C. and Kirsten, H. and Tin, A. and Chu, A. Y. and Bansal, N. and Feitosa, M. F. and Wang, L. and Chai, J. F. and Cocca, M. and Fuchsberger, C. and Gorski, M. and Hoppmann, A. and Horn, K. and Li, M. and Marten, J. and Noce, D. and Nutile, T. and Sedaghat, S. and Sveinbjornsson, G. and Tayo, B. O. and van der Most, P. J. and Xu, Y. and Yu, Z. and Gerstner, L. and ?rnl?v, J. and Bakker, S. J. L. and Baptista, D. and Biggs, M. L. and Boerwinkle, E. and Brenner, H. and Burkhardt, R. and Carroll, R. J. and Chee, M. L. and Chee, M. L. and Chen, M. and Cheng, C. Y. and Cook, J. P. and Coresh, J. and Corre, T. and Danesh, J. and de Borst, M. H. and De Grandi, A. and de Mutsert, R. and de Vries, A. P. J. and Degenhardt, F. and Dittrich, K. and Divers, J. and Eckardt, K. U. and Ehret, G. and Endlich, K. and Felix, J. F. and Franco, O. H. and Franke, A. and Freedman, B. I. and Freitag-Wolf, S. and Gansevoort, R. T. and Giedraitis, V. and G?gele, M. and Grundner-Culemann, F. and Gudbjartsson, D. F. and Gudnason, V. and Hamet, P. and Harris, T. B. and Hicks, A. A. and Holm, H. and Foo, V. H. X. and Hwang, S. J. and Ikram, M. A. and Ingelsson, E. and Jaddoe, V. W. V. and Jakobsdottir, J. and Josyula, N. S. and Jung, B. and K?h?nen, M. and Khor, C. C. and Kiess, W. and Koenig, W. and K?rner, A. and Kovacs, P. and Kramer, H. and Kr?mer, B. K. and Kronenberg, F. and Lange, L. A. and Langefeld, C. D. and Lee, J. J. and Lehtim?ki, T. and Lieb, W. and Lim, S. C. and Lind, L. and Lindgren, C. M. and Liu, J. and Loeffler, M. and Lyytik?inen, L. P. and Mahajan, A. and Maranville, J. C. and Mascalzoni, D. and McMullen, B. and Meisinger, C. and Meitinger, T. and Miliku, K. and Mook-Kanamori, D. O. and M?ller-Nurasyid, M. and Mychaleckyj, J. C. and Nauck, M. and Nikus, K. and Ning, B. and Noordam, R. and Connell, J. O. and Olafsson, I. and Palmer, N. D. and Peters, A. and Podgornaia, A. I. and Ponte, B. and Poulain, T. and Pramstaller, P. P. and Rabelink, T. J. and Raffield, L. M. and Reilly, D. F. and Rettig, R. and Rheinberger, M. and Rice, K. M. and Rivadeneira, F. and Runz, H. and Ryan, K. A. and Sabanayagam, C. and Saum, K. U. and Sch?ttker, B. and Shaffer, C. M. and Shi, Y. and Smith, A. V. and Strauch, K. and Stumvoll, M. and Sun, B. B. and Szymczak, S. and Tai, E. S. and Tan, N. Y. Q. and Taylor, K. D. and Teren, A. and Tham, Y. C. and Thiery, J. and Thio, C. H. L. and Thomsen, H. and Thorsteinsdottir, U. and T?njes, A. and Tremblay, J. and Uitterlinden, A. G. and van der Harst, P. and Verweij, N. and Vogelezang, S. and V?lker, U. and Waldenberger, M. and Wang, C. and Wilson, O. D. and Wong, C. and Wong, T. Y. and Yang, Q. and Yasuda, M. and Akilesh, S. and Bochud, M. and B?ger, C. A. and Devuyst, O. and Edwards, T. L. and Ho, K. and Morris, A. P. and Parsa, A. and Pendergrass, S. A. and Psaty, B. M. and Rotter, J. I. and Stefansson, K. and Wilson, J. G. and Susztak, K. and Snieder, H. and Heid, I. M. and Scholz, M. and Butterworth, A. S. and Hung, A. M. and Pattaro, C. and K?ttgen, A.}
}
@article {8527,
	title = {{Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels},
	journal = {Circulation},
	volume = {139},
	year = {2019},
	month = {01},
	pages = {620{\textendash}635},
	abstract = {Factor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are associated with risk of arterial and venous thrombosis and with hemorrhagic disorders. We aimed to identify and functionally test novel genetic associations regulating plasma FVIII and VWF.\ We meta-analyzed genome-wide association results from 46 354 individuals of European, African, East Asian, and Hispanic ancestry. All studies performed linear regression analysis using an additive genetic model and associated {\^a}{\textperthousand}{\textasciicircum}35 million imputed variants with natural log-transformed phenotype levels. In vitro gene silencing in cultured endothelial cells was performed for candidate genes to provide additional evidence on association and function. Two-sample Mendelian randomization analyses were applied to test the causal role of FVIII and VWF plasma levels on the risk of arterial and venous thrombotic events.\ We identified 13 novel genome-wide significant ( P{\^a}{\textperthousand}¤2.5{\~A}{\textemdash}10-8) associations, 7 with FVIII levels ( FCHO2/TMEM171/TNPO1, HLA, SOX17/RP1, LINC00583/NFIB, RAB5C-KAT2A, RPL3/TAB1/SYNGR1, and ARSA) and 11 with VWF levels ( PDHB/PXK/KCTD6, SLC39A8, FCHO2/TMEM171/TNPO1, HLA, GIMAP7/GIMAP4, OR13C5/NIPSNAP, DAB2IP, C2CD4B, RAB5C-KAT2A, TAB1/SYNGR1, and ARSA), beyond 10 previously reported associations with these phenotypes. Functional validation provided further evidence of association for all loci on VWF except ARSA and DAB2IP. Mendelian randomization suggested causal effects of plasma FVIII activity levels on venous thrombosis and coronary artery disease risk and plasma VWF levels on ischemic stroke risk.\ The meta-analysis identified 13 novel genetic loci regulating FVIII and VWF plasma levels, 10 of which we validated functionally. We provide some evidence for a causal role of these proteins in thrombotic events.},
	author = {Sabater-Lleal, M. and Huffman, J. E. and de Vries, P. S. and Marten, J. and Mastrangelo, M. A. and Song, C. and Pankratz, N. and Ward-Caviness, C. K. and Yanek, L. R. and Trompet, S. and Delgado, G. E. and Guo, X. and Bartz, T. M. and Martinez-Perez, A. and Germain, M. and de Haan, H. G. and Ozel, A. B. and Polasek, O. and Smith, A. V. and Eicher, J. D. and Reiner, A. P. and Tang, W. and Davies, N. M. and Stott, D. J. and Rotter, J. I. and Tofler, G. H. and Boerwinkle, E. and de Maat, M. P. M. and Kleber, M. E. and Welsh, P. and Brody, J. A. and Chen, M. H. and Vaidya, D. and Soria, J. M. and Suchon, P. and van Hylckama Vlieg, A. and Desch, K. C. and Kolcic, I. and Joshi, P. K. and Launer, L. J. and Harris, T. B. and Campbell, H. and Rudan, I. and Becker, D. M. and Li, J. Z. and Rivadeneira, F. and Uitterlinden, A. G. and Hofman, A. and Franco, O. H. and Cushman, M. and Psaty, B. M. and Morange, P. E. and McKnight, B. and Chong, M. R. and Fernandez-Cadenas, I. and Rosand, J. and Lindgren, A. and Gudnason, V. and Wilson, J. F. and Hayward, C. and Ginsburg, D. and Fornage, M. and Rosendaal, F. R. and Souto, J. C. and Becker, L. C. and Jenny, N. S. and M?rz, W. and Jukema, J. W. and Dehghan, A. and Tr?gou?t, D. A. and Morrison, A. C. and Johnson, A. D. and O{\textquoteright}Donnell, C. J. and Strachan, D. P. and Lowenstein, C. J. and Smith, N. L.}
}
@article {8281,
	title = {{A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure},
	journal = {Hum. Mol. Genet.},
	year = {2019},
	month = {Apr},
	abstract = {Elevated blood pressure (BP), a leading cause of global morbidity and mortality, is influenced by both genetic and lifestyle factors. Cigarette smoking is one such lifestyle factor. Across five ancestries, we performed a genome-wide gene-smoking interaction study of mean arterial pressure (MAP) and pulse pressure (PP) in 129 913 individuals in stage 1 and follow-up analysis in 480 178 additional individuals in stage 2. We report here 136 loci significantly associated with MAP and/or PP. Of these, 61 were previously published through main-effect analysis of BP traits, 37 were recently reported by us for systolic BP and/or diastolic BP through gene-smoking interaction analysis and 38 were newly identified (P < 5 {\~A}{\textemdash} 10-8, false discovery rate < 0.05). We also identified nine new signals near known loci. Of the 136 loci, 8 showed significant interaction with smoking status. They include CSMD1 previously reported for insulin resistance and BP in the spontaneously hypertensive rats. Many of the 38 new loci show biologic plausibility for a role in BP regulation. SLC26A7 encodes a chloride/bicarbonate exchanger expressed in the renal outer medullary collecting duct. AVPR1A is widely expressed, including in vascular smooth muscle cells, kidney, myocardium and brain. FHAD1 is a long non-coding RNA overexpressed in heart failure. TMEM51 was associated with contractile function in cardiomyocytes. CASP9 plays a central role in cardiomyocyte apoptosis. Identified only in African ancestry were 30 novel loci. Our findings highlight the value of multi-ancestry investigations, particularly in studies of interaction with lifestyle factors, where genomic and lifestyle differences may contribute to novel findings.},
	author = {Sung, Y. J. and de Las Fuentes, L. and Winkler, T. W. and Chasman, D. I. and Bentley, A. R. and Kraja, A. T. and Ntalla, I. and Warren, H. R. and Guo, X. and Schwander, K. and Manning, A. K. and Brown, M. R. and Aschard, H. and Feitosa, M. F. and Franceschini, N. and Lu, Y. and Cheng, C. Y. and Sim, X. and Vojinovic, D. and Marten, J. and Musani, S. K. and Kilpel?inen, T. O. and Richard, M. A. and Aslibekyan, S. and Bartz, T. M. and Dorajoo, R. and Li, C. and Liu, Y. and Rankinen, T. and Smith, A. V. and Tajuddin, S. M. and Tayo, B. O. and Zhao, W. and Zhou, Y. and Matoba, N. and Sofer, T. and Alver, M. and Amini, M. and Boissel, M. and Chai, J. F. and Chen, X. and Divers, J. and Gandin, I. and Gao, C. and Giulianini, F. and Goel, A. and Harris, S. E. and Hartwig, F. P. and He, M. and Horimoto, A. R. V. R. and Hsu, F. C. and Jackson, A. U. and Kammerer, C. M. and Kasturiratne, A. and Komulainen, P. and K?hnel, B. and Leander, K. and Lee, W. J. and Lin, K. H. and Luan, J. and Lyytik?inen, L. P. and McKenzie, C. A. and Nelson, C. P. and Noordam, R. and Scott, R. A. and Sheu, W. H. H. and Stan??kov?, A. and Takeuchi, F. and van der Most, P. J. and Varga, T. V. and Waken, R. J. and Wang, H. and Wang, Y. and Ware, E. B. and Weiss, S. and Wen, W. and Yanek, L. R. and Zhang, W. and Zhao, J. H. and Afaq, S. and Alfred, T. and Amin, N. and Arking, D. E. and Aung, T. and Barr, R. G. and Bielak, L. F. and Boerwinkle, E. and Bottinger, E. P. and Braund, P. S. and Brody, J. A. and Broeckel, U. and Cade, B. and Campbell, A. and Canouil, M. and Chakravarti, A. and Cocca, M. and Collins, F. S. and Connell, J. M. and de Mutsert, R. and de Silva, H. J. and D?rr, M. and Duan, Q. and Eaton, C. B. and Ehret, G. and Evangelou, E. and Faul, J. D. and Forouhi, N. G. and Franco, O. H. and Friedlander, Y. and Gao, H. and Gigante, B. and Gu, C. C. and Gupta, P. and Hagenaars, S. P. and Harris, T. B. and He, J. and Heikkinen, S. and Heng, C. K. and Hofman, A. and Howard, B. V. and Hunt, S. C. and Irvin, M. R. and Jia, Y. and Katsuya, T. and Kaufman, J. and Kerrison, N. D. and Khor, C. C. and Koh, W. P. and Koistinen, H. A. and Kooperberg, C. B. and Krieger, J. E. and Kubo, M. and Kutalik, Z. and Kuusisto, J. and Lakka, T. A. and Langefeld, C. D. and Langenberg, C. and Launer, L. J. and Lee, J. H. and Lehne, B. and Levy, D. and Lewis, C. E. and Li, Y. and Lim, S. H. and Liu, C. T. and Liu, J. and Liu, J. and Liu, Y. and Loh, M. and Lohman, K. K. and Louie, T. and M?gi, R. and Matsuda, K. and Meitinger, T. and Metspalu, A. and Milani, L. and Momozawa, Y. and Mosley, T. H. and Nalls, M. A. and Nasri, U. and O{\textquoteright}Connell, J. R. and Ogunniyi, A. and Palmas, W. R. and Palmer, N. D. and Pankow, J. S. and Pedersen, N. L. and Peters, A. and Peyser, P. A. and Polasek, O. and Porteous, D. and Raitakari, O. T. and Renstr?m, F. and Rice, T. K. and Ridker, P. M. and Robino, A. and Robinson, J. G. and Rose, L. M. and Rudan, I. and Sabanayagam, C. and Salako, B. L. and Sandow, K. and Schmidt, C. O. and Schreiner, P. J. and Scott, W. R. and Sever, P. and Sims, M. and Sitlani, C. M. and Smith, B. H. and Smith, J. A. and Snieder, H. and Starr, J. M. and Strauch, K. and Tang, H. and Taylor, K. D. and Teo, Y. Y. and Tham, Y. C. and Uitterlinden, A. G. and Waldenberger, M. and Wang, L. and Wang, Y. X. and Wei, W. B. and Wilson, G. and Wojczynski, M. K. and Xiang, Y. B. and Yao, J. and Yuan, J. M. and Zonderman, A. B. and Becker, D. M. and Boehnke, M. and Bowden, D. W. and Chambers, J. C. and Chen, Y. I. and Weir, D. R. and de Faire, U. and Deary, I. J. and Esko, T. and Farrall, M. and Forrester, T. and Freedman, B. I. and Froguel, P. and Gasparini, P. and Gieger, C. and Horta, B. L. and Hung, Y. J. and Jonas, J. B. and Kato, N. and Kooner, J. S. and Laakso, M. and Lehtim?ki, T. and Liang, K. W. and Magnusson, P. K. E. and Oldehinkel, A. J. and Pereira, A. C. and Perls, T. and Rauramaa, R. and Redline, S. and Rettig, R. and Samani, N. J. and Scott, J. and Shu, X. O. and van der Harst, P. and Wagenknecht, L. E. and Wareham, N. J. and Watkins, H. and Wickremasinghe, A. R. and Wu, T. and Kamatani, Y. and Laurie, C. C. and Bouchard, C. and Cooper, R. S. and Evans, M. K. and Gudnason, V. and Hixson, J. and Kardia, S. L. R. and Kritchevsky, S. B. and Psaty, B. M. and van Dam, R. M. and Arnett, D. K. and Mook-Kanamori, D. O. and Fornage, M. and Fox, E. R. and Hayward, C. and van Duijn, C. M. and Tai, E. S. and Wong, T. Y. and Loos, R. J. F. and Reiner, A. P. and Rotimi, C. N. and Bierut, L. J. and Zhu, X. and Cupples, L. A. and Province, M. A. and Rotter, J. I. and Franks, P. W. and Rice, K. and Elliott, P. and Caulfield, M. J. and Gauderman, W. J. and Munroe, P. B. and Rao, D. C. and Morrison, A. C.}
}
@article {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 {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. 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}
@article {9263,
	title = {{A saturated map of common genetic variants associated with human height},
	journal = {Nature},
	volume = {610},
	year = {2022},
	month = {Oct},
	pages = {704{\textendash}712},
	abstract = {) account for 40\% (45\%) of phenotypic variance in populations of European ancestry but only around 10-20\% (14-24\%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries.},
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}
