The contribution of polymorphism in the alcohol dehydrogenase β subunit to alcohol sensitivity in a Japanese population-猫眼课题宝

乙醇脱氢酶β亚基多态性对日本人群酒精敏感性的贡献

DOI：

发表时间：

1996

期刊：

Human Genetics

影响因子：

5.3

通讯作者：

中科院分区：

生物学2区

文献类型：

作者：

T. Takeshita;XiaoQuang Mao;K. Morimoto

在人体中，摄入的酒精主要通过I类乙醇脱氢酶（ADII）和乙醛脱氢酶（ALDH）的组合代谢。在东方人中，I 类 ADH β 亚基 (ADHZ) 和低 Km ALDH (ALDH2) 均存在高度频繁的多态性。我们鉴定了日本人群中 ALDH2 的三种基因型。在本研究中，我们评估了 ADH2 多态性在同一人群（424 名男性和 100 名女性）中的影响，并控制了 ALDH2 多态性的影响。在 ALDH21/ALDH22 组中，ADH21/ADH22 和 ADH22/ADH22 基因型中喝一杯啤酒导致面部潮红的频率显着高于 ADH21/ADH21 基因型。同样，乙醇引起的皮肤红斑呈阳性结果的人的比例根据 ALDH21/ALDH21 和 ALDH21/ALDH22 基因型中 ADH2 基因型的不同而显着不同。然而，饮酒习惯与ADH2基因型没有显着相关，表明ADH2基因型仅影响外周组织中的乙醇代谢。

In humans, ingested alcohol is mainly metabolized by the combination of class I alcohol dehydrogenase (ADII) and aldehyde dehydrogenase (ALDH). In Orientals, there are highly frequent polymorphisms both in the class I ADH β subunit (ADHZ) and in the low Km ALDH (ALDH2). We characterized the three genotypes of ALDH2 in a Japanese population. In the present study, we evaluated the effects of the ADH2 polymorphism in the same population (424 males and 100 females) controlling for the effects of the ALDH2 polymorphism. In the ALDH21/ALDH22 group, the frequency of facial flushing with one glass of beer was significantly higher in the ADH21/ADH22 and ADH22/ADH22 genotype than in the ADH21/ADH21 genotype. Likewise, the proportion of persons with positive results for ethanol-induced cutaneous erythema differed significantly depending on the ADH2 genotype in both the ALDH21/ALDH21 and ALDH21/ALDH22 genotypes. However, drinking habits were not significantly associated with the ADH2 genotype, suggesting that the ADH2 genotype influences the metabolism of ethanol only in the peripheral tissues.