Among polymorphisms in
ATP-binding cassette transporter A1 (
ABCA1) gene, the available evidence demonstrates that the
ABCA1 R219K polymorphism (G1051A, rs2230806)
K allele is associated with a higher high-density lipoprotein cholesterol (HDL- C) level and may play a protective role against coronary artery disease (CAD) risk in Asians and Caucasians. The findings from many underpowered studies from Asian countries (n=71-597), however, still remain inconsistent. The objective of this study was to overcome the limitations of previous studies in Asia and provide solid epidemiologic evidence. Subjects were participants of a cohort study, who visited the Daiko Medical Center in Nagoya, Japan. The cohort study belongs to the Japan Multi-Institutional Collaborative Cohort Study (J-MICC Study). In the Daiko Study, 5,133 participants (1,458 men and 3,675 women) aged 35-69 years enrolled from 2008 through 2010 were eligible for the analyses. The
ABCA1 polymorphism was genotyped by the polymerase chain reaction with confronting two-pair primers (PCR-CTPP) method. Among all the subjects, the genotype frequencies were 23.9% (n=1,225) for
RR, 49.3% (n=2,532) for
RK, and 26.8% (n=1,376) for
KK, which was in Hardy-Weinberg’s equilibrium (
P =0.36). Background characteristics did not significantly differ among the genotypes including alcohol and tobacco use. The mean ± SD of HDL-C concentration was higher in men and women with
RK or
KK genotype than those with
RR, although the difference between these genotypes was not statistically significant in both sexes (
P =0.31 in men and 0.26 in women by ANOVA). In the multiple linear regression analysis to estimate the independent effects of the R219K polymorphism on HDL-C level, however, the number of
K allele was significantly correlated with an increased level of HDL-C (trend
P=0.033). Those with the
KK genotype showed a significantly higher HDL-C concentration compared with those with the
RR genotype by a mean of 1.18 mg/dL. The R219K polymorphism of
ABCA1 independently associated with serum level of HDL-C in a large Japanese population.
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