Abstract 3567: Association between Four SNPs on Chromosome 9p21 and Coronary Artery Disease in a South Korean Population
Background: Two recent, independent genome-wide SNP association studies identified four SNP variants on chromosome 9p21 that were associate with coronary artery disease (CAD: rs10757274, rs2383206) and myocardial infarction (MI: rs2383207, rs10757278) in several Caucasian cohorts. However, it is unknown whether these SNPs are also associated with CAD or MI in other ethnic populations.
Methods: A population-based case control study consisting of 611 CAD patients and 294 controls from South Korea was carried out. SNP genotyping was performed using the 5’ nuclease allelic discrimination assay with an ABI Prism 7900HT Sequence Detection System. Haplotypes were estimated using the Haploview software. The allelic or genotypic associations of SNPs or SNP haplotypes with CAD were evaluated using the Pearson’s Chi-square test. Empirical P-values were calculated using 100,000 Monte Carlo simulations by the CLUMP program.
Results: SNP frequencies did not deviate from Hardy-Weinberg equilibrium (P> 0.05). Allelic frequencies of all four SNPs were significantly different between cases and controls (Table⇓, Pobs=0.01, OR=1.29 –1.32) and remained significant after permutation testing ( Pemp=0.01). Association analysis of the SNPs using recessive, additive and dominant models were then carried out. All SNPs showed significant association with CAD assuming an additive model (P=0.004 – 0.03; Pemp=0.004 – 0.03) or a recessive model (P=0.001– 0.01; Pemp=0.0008 – 0.02; OR=0.47– 0.68). The AAAA haplotype was significantly associated with CAD ( Pobs=0.007, Pemp=0.008, OR=0.75).
Conclusions: These results demonstrate that four SNPs, rs10757274, rs2383206, rs2383207, and rs10757278 on chromosome 9p21, confer risk of CAD in a South Korean population and represent the first replication of association of these SNPs with CAD in a different ethnic population.