This chapter focuses on the epidemiology of ALDH2 gene and cardiovascular disease. The gene for low-Km human mitochondrial Aldehyde Dehydrogenase (ALDH2) is located on the long arm of chromosome 12. A point mutation at position 1510, with a G to A transition in exon 12, is commonly observed, but only in Mongoloid populations. The chapter explores whether this genotype could be a determinant for regional differences in cardiovascular disease. To clarify this relation, several epidemiologic studies concerning the relationship between the ALDH2 genotype and cardiovascular parameters-such as blood pressure, blood lipids, diabetes, and so on, have been performed, mostly in Japanese population. The ALDH2*2 allele is associated with decreases in systolic blood pressure, diastolic blood pressure and the prevalence of hypertension because of its restrictive effect on alcohol consumption. However, the ALDH allele per se has no effect on the blood pressure. The ALDH2*2 allele is associated with lowered serum high-density lipoprotein (HDL) cholesterol and triglyceride levels, also mainly because of its restrictive effect on alcohol consumption. Furthermore, subjects with the ALDH2*2 allele may not exhibit a beneficial increase in HDL cholesterol after higher than moderate alcohol consumption.
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