<i>ATP-binding cassette transporter A1</i> (<i>ABCA1</i>) R219K (G1051A, rs2230806) polymorphism and serum high-density lipoprotein cholesterol levels in a large Japanese population: cross-sectional data from the Daiko Study
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Among polymorphisms in <i>ATP-binding cassette transporter A1</i> (<i>ABCA1</i>) gene, the available evidence demonstrates that the <i>ABCA1</i> R219K polymorphism (G1051A, rs2230806) <i>K</i> 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 <i>ABCA1</i> 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 <i>RR</i>, 49.3% (n=2,532) for <i>RK</i>, and 26.8% (n=1,376) for <i>KK</i>, which was in Hardy-Weinberg’s equilibrium (<i>P</i> =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 <i>RK</i> or <i>KK</i> genotype than those with <i>RR</i>, although the difference between these genotypes was not statistically significant in both sexes (<i>P</i> =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 <i>K</i> allele was significantly correlated with an increased level of HDL-C (trend <i>P</i>=0.033). Those with the <i>KK</i> genotype showed a significantly higher HDL-C concentration compared with those with the <i>RR</i> genotype by a mean of 1.18 mg/dL. The R219K polymorphism of <i>ABCA1</i> independently associated with serum level of HDL-C in a large Japanese population.
- Endocrine Journal
Endocrine Journal 62(6), 543-549, 2015
The Japan Endocrine Society