한국인에서 ABCA1 유전자의 R219K 다형성과 혈중 지질 및 관동맥질환과의 연관성

Abstract

Background and Objectives: ATP binding cassette (ABCA)1 is known to play a key role in reverse cholesterol transport. The purpose of this study was to investigate the frequency of the R219K variant in a Korean population, its associations with plasma lipid levels and coronary artery disease (CAD).

Subjects and Methods: One hundred and ninety six CAD patients (M：F＝148：48, age 57.7±8.3 years) and 935 healthy control subjects (M：F＝402：533, age 43.9±11.8 years) were examined. We investigated the R219K polymorphism using a SNP-IT assay. The plasma lipid levels were determined, and the findings of coronary angiography in CAD patients reviewed.

Results: The frequencies of the carrier K allele and the K allele were 72.0 and 45.9%, respectively. The distribution of ABCA1 genotypes in the CAD patients did not differ significantly from those of the normal control subjects. However, there was a significant association of this ABCA1 genotype variant with plasma. The HDL-C levels and the genotypes, especially in the male normal controls (KK 53.3±11.4 ㎎/㎗ vs. RR 49.2±11.7 ㎎/㎗, p＝0.02) showed association. However, the female groups showed no association between the plasma HDL levels and the genotypes. The severity of CAD was also related to the ABCA1 genotype. Multi-vessel diseases were found more commonly in the RR genotype (KK 40.0% vs. RR 64.2%), whereas single-vessel diseases were more common in the KK genotype (KK 60.0% vs. RR 35.8%) (p＝0.028).

Conclusion: The R219K variant of the ABCA1 gene was commonly found in our Korean population, and was associated with increased plasma HDL-C levels and a reduced severity of CAD.