Association of an aldehyde dehydrogenase 2 (ALDH2) gene polymorphism with hyper-low-density lipoprotein cholesterolemia in a Japanese population.

OBJECTIVE The relationship among alcohol metabolism, lipid profile and cardiovascular disease has been a matter of concern, and aldehyde dehydrogenase-2 (ALDH2) is one of the key enzymes involved in alcohol metabolism. The frequency of ALDH2 gene G/A polymorphism (with the substitution of glutamic acid to lysine) varies widely among ethnic groups; the polymorphism is prevalent among Asian people but rare in other ethnic groups. The objective of our study was to investigate the association between the ALDH2 gene G/A polymorphism and lipid profile, including the low-density lipoprotein cholesterol (LDL-C) status, in a general Japanese population with no or light-to-moderate alcohol drinking habits. METHODS Anthropometric and biochemical variables including lipid- and glucose-related factors were measured in a total of 383 Japanese participants (170 males and 213 females; mean age, 45 +/- 8.6 years), free of cardiovascular disease. All participants were genotyped by an allele-specific DNA assay. RESULTS The numbers of participants with the G/ G, G/A and A/A genotypes were 213, 139 and 31, respectively. The percentages of hyper-LDL-cholesterolemia (identified by LDL-C > or = 3.63 mmol/L) were 31.9%, 45.3% and 29.0% in participants with the G/G, G/A and A/A genotypes, respectively. Carrying the G/A + AA genotype was a significant and positive factor related to hyper-LDL-cholesterolemia with an odds ratio of 1.62 (95% CI: 1.04-2.52) after adjusting for the other variables including drinking status. CONCLUSION Our findings suggest that the ALDH2 gene G/A polymorphism can affect the lipid profile such as LDL-C status in this population. The association between the polymorphism and LDL-C status warrants further investigation.