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Genome-wide association analysis and replication of coronary artery disease in South Korea suggests a causal variant common to diverse populations

 Eun Young Cho  ;  Yangsoo Jang  ;  Eun Soon Shin  ;  Hye Yoon Jang  ;  Yeon-Kyeong Yoo  ;  Sook Kim  ;  Ji Hyun Jang  ;  Ji Yeon Lee  ;  Min Hye Yun  ;  Min Young Park  ;  Jey Sook Chae  ;  Jin Woo Lim  ;  Dong Jik Shin  ;  Sungha Park  ;  Jong Ho Lee  ;  Bok Ghee Han  ;  Kim Hyung Rae  ;  Lon R Cardon  ;  Andrew P Morris  ;  Jong Eun Lee  ;  Geraldine M Clarke 
 HEART ASIA, Vol.2 : 104-108, 2010 
Journal Title
Issue Date
Asian and Caucasian populations ; Coronary artery disease ; common causal mutation ; genetics ; genome-wide association study ; myocardial infarction ; population studies
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.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원) > 1. Journal Papers
Yonsei Authors
Park, Sung Ha(박성하) ORCID logo https://orcid.org/0000-0001-5362-478X
Lim, Jin Woo(임진우)
Jang, Yang Soo(장양수) ORCID logo https://orcid.org/0000-0002-2169-3112
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