Article Text

Download PDFPDF

Genome-wide association analysis and replication of coronary artery disease in South Korea suggests a causal variant common to diverse populations
  1. Eun Young Cho2,
  2. Yangsoo Jang3,
  3. Eun Soon Shin2,
  4. Hye Yoon Jang2,
  5. Yeon-Kyeong Yoo2,
  6. Sook Kim2,
  7. Ji Hyun Jang2,
  8. Ji Yeon Lee2,
  9. Min Hye Yun2,
  10. Min Young Park2,
  11. Jey Sook Chae3,
  12. Jin Woo Lim4,
  13. Dong Jik Shin4,
  14. Sungha Park4,
  15. Jong Ho Lee3,
  16. Bok Ghee Han5,
  17. Kim Hyung Rae5,
  18. Lon R Cardon6,
  19. Andrew P Morris1,
  20. Jong Eun Lee2,
  21. Geraldine M Clarke1
  1. 1Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK
  2. 2DNA Link, Seoul, Republic of Korea
  3. 3Clinical Nutrigenetics/Nutrigenomics Lab, Department of Food & Nutrition, College of Human Ecology, Yonsei University Research Institute of Science for Ageing, Yonsei University, Seoul, Republic of Korea
  4. 4Division of Cardiology, Cardiovascular Genome Center, Yonsei Medical Institute, Yonsei University, Seoul, Republic of Korea
  5. 5National Genome Research Institute, Korean National Institute of Health, Seoul, Korea
  6. 6GlaxoSmithKline, Philadelphia, Pennsylvania, USA
  1. Correspondence to Dr Geraldine M Clarke, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK; gclarke{at}


Background Recent genome-wide association (GWA) studies have identified and replicated several genetic loci associated with the risk of development of coronary artery disease (CAD) in samples from populations of Caucasian and Asian descent. However, only chromosome 9p21 has been confirmed as a major susceptibility locus conferring risk for development of CAD across multiple ethnic groups. The authors aimed to find evidence of further similarities and differences in genetic risk of CAD between Korean and other populations.

Methods The authors performed a GWA study comprising 230 cases and 290 controls from a Korean population typed on 490 032 single nucleotide polymorphisms (SNPs). A total of 3148 SNPs were taken forward for genotyping in a subsequent replication study using an independent sample of 1172 cases and 1087 controls from the same population.

Results The association previously observed on chromosome 9p21 was independently replicated (p=3.08e–07). Within this region, the same risk haplotype was observed in samples from both Korea and of Western European descent, suggesting that the causal mutation carried on this background occurred on a single ancestral allele. Other than 9p21, the authors were unable to replicate any of the previously reported signals for association with CAD. Furthermore, no evidence of association was found at chromosome 1q41 for risk of myocardial infarction, previously identified as conferring risk in a Japanese population.

Conclusion A common causal variant is likely to be responsible for risk of CAD in Korean and Western European populations at chromosome 9p21.3. Further investigations are required to confirm non-replication of any other cross-race genetic risk factors.

  • Coronary artery disease
  • genome-wide association study
  • Asian and Caucasian populations
  • common causal mutation
  • genetics
  • myocardial infarction
  • population studies
View Full Text

Statistics from


  • EYC and YJ contributed equally.

  • Funding Korea Health 21 R&D Project, Ministry of Health and Welfare, Republic of Korea Grant A050558; 2001 Good Health R&D Project, Ministry of Health and Welfare, Republic of Korea Grant A000385; Wellcome Trust.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval Ethics approval was provided by the Institutional Review Board of Yonsei University.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.