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

Ji Young Lee, Bok Soo Lee, Dong Jik Shin, Kyung Woo Park, Young Ah Shin, Kwang Joong Kim, Lyong Heo, Ji Young Lee, Yun Kyoung Kim, Young Jin Kim, Chang Bum Hong, Sang Hak Lee, Dankyu Yoon, Hyo Jung Ku, Il Young Oh, Bong Jo Kim, Juyoung Lee, Seon Joo Park, Jimin Kim, Hye Kyung KawkJong Eun Lee, Hye Kyung Park, Jae Eun Lee, Hye Young Nam, Hyun Young Park, Chol Shin, Mitsuhiro Yokota, Hiroyuki Asano, Masahiro Nakatochi, Tatsuaki Matsubara, Hidetoshi Kitajima, Ken Yamamoto, Hyung Lae Kim, Bok Ghee Han, Myeong Chan Cho, Yangsoo Jang, Hyo Soo Kim, Jeong Euy Park, Jong Young Lee

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116 Scopus citations


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.

Original languageEnglish
Pages (from-to)120-126
Number of pages7
JournalJournal of Human Genetics
Issue number3
StatePublished - 1 Mar 2013


  • coronary artery disease
  • genome-wide association study
  • polymorphism


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