Kee Joo Young, Kim Min Ok, You Il Young, Chai Ji Young, Hong Eui Sil, An Sung Chul, Kim Heon, Park Seon Mee, Youn Sei Jin, Chae Hee Bok
Department of Internal Medicine, Chungbuk National University College of Medicine, Cheongju, Korea.
Taehan Kan Hakhoe Chi. 2003 Jun;9(2):89-97.
BACKGROUND/AIMS: Genetic variations of ethanol-metabolizing enzymes can affect alcohol drinking behavior. The aims of this study were to investigate and compare the distributions of these genetic polymorphisms between a healthy control group and a heavy drinker group which included an alcoholic liver cirrhosis group.
Genotypes of ADH2, ALDH2, CYP2E1, and catalase were identified by polymerase chain reaction and restriction fragment length polymorphism. Genomic DNA was extracted from peripheral leukocytes in 42 healthy controls, 12 heavy drinkers, and 30 alcoholic liver cirrhosis patients.
These results suggest that the absence of ALDH2 mutant genotype is strongly related to heavy drinking behavior. We can not prove, however, any evidence that the polymorphisms of other ethanol-metabolizing enzymes are associated with the determination of alcohol-drinking behavior.
背景/目的：乙醇代谢酶的基因变异会影响饮酒行为。本研究旨在调查和比较健康对照组与包括酒精性肝硬化组在内的重度饮酒者组之间这些基因多态性的分布情况。
采用聚合酶链反应和限制性片段长度多态性方法鉴定乙醇脱氢酶2（ADH2）、乙醛脱氢酶2（ALDH2）、细胞色素P450 2E1（CYP2E1）和过氧化氢酶的基因型。从42名健康对照者、12名重度饮酒者和30名酒精性肝硬化患者的外周血白细胞中提取基因组DNA。
1）在健康韩国男性中，ALDH2（11）、ADH2（11）、CYP2E1（c1c1）和过氧化氢酶1（TT）的基因型频率分别为69%、55%、38%和12%。2）对照组与重度饮酒者组（12名重度饮酒者和30名酒精性肝硬化患者）之间ALDH2基因多态性分布存在显著差异。重度饮酒者组中ALDH2突变型ALDH2（12）和ALDH2（22）的基因型频率（12%）显著低于对照组（30%）。3）在重度饮酒者组中未发现ALDH2纯合突变体（DD）。4）两组之间ADH2、CYP2E1和过氧化氢酶1基因多态性分布无显著差异。
这些结果表明，ALDH2突变基因型的缺失与重度饮酒行为密切相关。然而，我们无法证明其他乙醇代谢酶的多态性与饮酒行为的决定有关。
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