Shen Y C, Fan J H, Edenberg H J, Li T K, Cui Y H, Wang Y F, Tian C H, Zhou C F, Zhou R L, Wang J, Zhao Z L, Xia G Y
Institute of Mental Health, Beijing Medical University, Peoples Republic of China.
Alcohol Clin Exp Res. 1997 Oct;21(7):1272-7.
The alcohol dehydrogenases (ADHs) and aldehyde dehydrogenases (ALDHs) that metabolize ethanol are polymorphic. Different alleles encode subunits of the enzymes that differ in their rate of metabolizing ethanol. These polymorphisms are distributed differently among populations and have been shown to influence the risk for alcoholism in some Asian populations. We have examined the allele frequencies at the ADH2, ADH3, and ALDH2 loci in four populations from China (Han, Mongolian, Korean, and Elunchun) and in alcoholics within each population. The four populations differ in allele frequencies, with the Elunchun having a much lower frequency of ADH22 alleles, and the Mongolian and Elunchun having a much lower frequency of ALDH22 alleles. Within each population, alleles at one or more of these three loci are protective against alcoholism, although the populations differ in which loci play significant roles. The protective allele at each locus (ALDH22, ADH22, and ADH3*1) encodes a subunit that either metabolizes ethanol to acetaldehyde more rapidly or slows the conversion of acetaldehyde to acetate. Taken as a whole, data demonstrate that genetic differences in the enzymes that metabolize alcohol can substantially affect the risk for alcoholism.
代谢乙醇的乙醇脱氢酶（ADHs）和乙醛脱氢酶（ALDHs）具有多态性。不同的等位基因编码代谢乙醇速率不同的酶亚基。这些多态性在不同人群中的分布有所不同，并且已证明在一些亚洲人群中会影响酗酒风险。我们检测了来自中国的四个群体（汉族、蒙古族、朝鲜族和鄂伦春族）以及每个群体中的酗酒者在ADH2、ADH3和ALDH2基因座的等位基因频率。这四个群体的等位基因频率有所不同，鄂伦春族的ADH22等位基因频率低得多，蒙古族和鄂伦春族的ALDH22等位基因频率低得多。在每个群体中，这三个基因座中一个或多个基因座的等位基因对酗酒具有保护作用，尽管不同群体中起重要作用的基因座有所不同。每个基因座的保护等位基因（ALDH22、ADH22和ADH3*1）编码的亚基要么能更快地将乙醇代谢为乙醛，要么减缓乙醛向乙酸的转化。总体而言，数据表明代谢酒精的酶的基因差异会显著影响酗酒风险。
