View : 33 Download: 0

A genome-wide association study of a coronary artery disease risk variant

Title
A genome-wide association study of a coronary artery disease risk variant
Authors
Lee J.-Y.Lee B.-S.Shin D.-J.Woo Park K.Shin Y.-A.Joong Kim K.Heo L.Lee J.Y.Kim Y.K.Jin Kim Y.Hong C.B.Lee S.-H.Yoon D.Jung Ku H.Oh I.-Y.Kim B.-J.Lee J.Park S.-J.Kim J.Kawk H.-K.Lee J.-E.Park H.-K.Nam H.-Y.Park H.-Y.Shin C.Yokota M.Asano H.Nakatochi M.Matsubara T.Kitajima H.Yamamoto K.Kim H.-L.Han B.-G.Cho M.-C.Jang Y.Kim H.-S.Euy Park J.
Ewha Authors
김형래
SCOPUS Author ID
김형래scopus
Issue Date
2013
Journal Title
Journal of Human Genetics
ISSN
1434-5161JCR Link
Citation
vol. 58, no. 3, pp. 120 - 126
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Although over 30 common genetic susceptibility loci have been identified to be independently associated with coronary artery disease (CAD) risk through genome-wide association studies (GWAS), genetic risk variants reported to date explain only a small fraction of heritability. To identify novel susceptibility variants for CAD and confirm those previously identified in European population, GWAS and a replication study were performed in the Koreans and Japanese. In the discovery stage, we genotyped 2123 cases and 3591 controls with 521 786 SNPs using the Affymetrix SNP Array 6.0 chips in Korean. In the replication, direct genotyping was performed using 3052 cases and 4976 controls from the KItaNagoya Genome study of Japan with 14 selected SNPs. To maximize the coverage of the genome, imputation was performed based on 1000 Genome JPT+CHB and 5.1 million SNPs were retained. CAD association was replicated for three GWAS-identified loci (1p13.3/SORT1 (rs599839), 9p21.3/CDKN2A/2B (rs4977574), and 11q22.3/ PDGFD (rs974819)) in Koreans. From GWAS and a replication, SNP rs3782889 showed a strong association (combined P=3.95 × 10-14), although the association of SNP rs3782889 doesn't remain statistically significant after adjusting for SNP rs11066015 (proxy SNP with BRAP (r2 =1)). But new possible CAD-associated variant was observed for rs9508025 (FLT1), even though its statistical significance did marginally reach at the genome-wide a significance level (combined P=6.07 × 10-7). This study shows that three CAD susceptibility loci, which were previously identified in European can be directly replicated in Koreans and also provides additional evidences implicating suggestive loci as risk variants for CAD in East Asian. © 2013 The Japan Society of Human Genetics All rights reserved.
DOI
10.1038/jhg.2012.124
Appears in Collections:
의과대학 > 의학과 > Journal papers
Files in This Item:
There are no files associated with this item.
Export
RIS (EndNote)
XLS (Excel)
XML


qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

BROWSE