Korean Circ J.  2003 Jan;33(1):44-51. 10.4070/kcj.2003.33.1.44.

Association of R219K Polymorphism in the ABCA1 Gene with Plasma Lipid Levels and Coronary Artery Disease in Koreans

• Ko YG
• Cho EY
• Park HY
• Jang YS
• Kim S
• Lee JE

• KMID: 1637927
• DOI: http://doi.org/10.4070/kcj.2003.33.1.44

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 mg/dL vs. RR 49.2+/-11.7 mg/dL, 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.

Keyword

ATP-binding cassette transporters; Polymorphism; single; nucleotide; Coronary disease; Lipids

MeSH Terms

Adenosine Triphosphate
Alleles
ATP-Binding Cassette Transporters
Cholesterol
Coronary Angiography
Coronary Artery Disease*
Coronary Disease
Coronary Vessels*
Female
Genotype
Humans
Male
Plasma*
ATP-Binding Cassette Transporters
Adenosine Triphosphate
Cholesterol