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Large-scale gene-centric analysis identifies novel variants for coronary Artery disease

Title: Large-scale gene-centric analysis identifies novel variants for coronary Artery disease
Authors: Butterworth, AS; Braund, PS; Farrall, M; Hardwick, RJ; Saleheen, D; Peden, JF; Soranzo, N; Chambers, JC; Sivapalaratnam, S; Kleber, ME; Keating, B; Qasim, A; Klopp, N; Erdmann, J; Assimes, TL; Ball, SG; Balmforth, AJ; Barnes, TA; Basart, H; Baumert, J; Bezzina, CR; Boerwinkle, E; Boehm, BO; Brocheton, J; Bugert, P; Cambien, F; Clarke, R; Codd, V; Collins, R; Couper, D; Cupples, LA; De Jong, JS; Diemert, P; Ejebe, K; Elbers, CC; Elliott, P; Fornage, M; Franzosi, M-G; Frossard, P; Garner, S; Goel, A; Goodall, AH; Hengstenberg, C; Hunt, SE; Kastelein, JJP; Klungel, OH; Klueter, H; Koch, K; Koenig, IR; Kooner, AS; Laaksonen, R; Lathrop, M; Li, M; Liu, K; McPherson, R; Musameh, MD; Musani, S; Nelson, CP; O'Donnell, CJ; Ongen, H; Papanicolaou, G; Peters, A; Peters, BJM; Potter, S; Psaty, BM; Qu, L; Rader, DJ; Rasheed, A; Rice, C; Scott, J; Seedorf, U; Sehmi, JS; Sotoodehnia, N; Stark, K; Stephens, J; Van der Schoot, CE; Van der Schouw, YT; Thorsteinsdottir, U; Tomaszewski, M; Van der Harst, P; Vasan, RS; Wilde, AAM; Willenborg, C; Winkelmann, BR; Zaidi, M; Zhang, W; Ziegler, A; De Bakker, PIW; Koenig, W; Maerz, W; Trip, MD; Reilly, MP; Kathiresan, S; Schunkert, H; Hamsten, A; Hall, AS; Kooner, JS; Thompson, SG; Thompson, JR; Deloukas, P; Ouwehand, WH; Watkins, H; Danesh, J; Samani, NJ
Contributors: Medical Research Council (MRC)
Publisher Information: Public Library of Science (PLoS)
Publication Year: 2011
Collection: Imperial College London: Spiral
Subject Terms: Science & Technology; Life Sciences & Biomedicine; Genetics & Heredity; GENOME-WIDE ASSOCIATION; MYOCARDIAL-INFARCTION; SUSCEPTIBILITY LOCI; RISK; ATHEROSCLEROSIS; METAANALYSIS; LIPOPROTEIN; Adult; Aged; Alleles; Asian Continental Ancestry Group; Case-Control Studies; Coronary Artery Disease; European Continental Ancestry Group; Female; Genetic Predisposition to Disease; Genetic Variation; Genome-Wide Association Study; Humans; Male; Middle Aged; Polymorphism; Single Nucleotide; IBC 50K CAD Consortium
Description: Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants. We examined 49,094 genetic variants in ∼2,100 genes of cardiovascular relevance, using a customised gene array in 15,596 CAD cases and 34,992 controls (11,202 cases and 30,733 controls of European descent; 4,394 cases and 4,259 controls of South Asian origin). We attempted to replicate putative novel associations in an additional 17,121 CAD cases and 40,473 controls. Potential mechanisms through which the novel variants could affect CAD risk were explored through association tests with vascular risk factors and gene expression. We confirmed associations of several previously known CAD susceptibility loci (eg, 9p21.3:p
Document Type: article in journal/newspaper
Language: English
Relation: PLoS Genetics; http://hdl.handle.net/10044/1/53986; https://dx.doi.org/10.1371/journal.pgen.1002260; G0700931; G0601966; G0801056B; G0801056
DOI: 10.1371/journal.pgen.1002260
Availability: http://hdl.handle.net/10044/1/53986; https://doi.org/10.1371/journal.pgen.1002260
Rights: © 2011 Butterworth et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Accession Number: edsbas.EDAE725A
Database: BASE