乙醇脱氢酶基因多态性与饮酒行为及所致相关疾病的研究进展

酒精在体内的代谢主要是通过由乙醇脱氢酶(alcohol dehydrogenase,ADH)参与的氧化途径在肝脏内完成的。乙醇脱氢酶基因变异可导致因饮酒在不同种族和个体间酒精代谢发生改变,这是因饮酒导致各种相关问题的重要原因之一。近年来,对ADH基因的序列结构、分类及其相关的重要的功能等都有了深入的了解,对ADH的多态性在研究方法、研究群体分布范围等都有了很大的进展。本文主要讨论了ADH不同多态位点的地理分布,与饮酒行为的关系及其导致的各种相关疾病如肝脏、胰腺疾病,心血管疾病,消化道疾病,乳腺癌。

Progress in the study of alcohol dehydrogenase polymorphism and drinking behavior as well as alcohol-related diseases

In human body,metabolism of alcohol is mainly through the oxidative pathway mediated by alcohol dehydrogenase in the liver.Alcohol dehydrogenase polymorphisms exhibit great inter-individual and inter-ethnic variability in activity,which is one of the most important reasons resulting in alcohol-related problems.Recently,the researchers on the polymorphisms have made great progress not only in the gene itself but also in its frequencies and alcohol-related diseases in different population.This paper mainly discusses geographical distribution of ADH polymorphisms,and relationship between drinking behavior and alcohol-related diseases,such as hepatic,pancreatic diseases,cardiovascular diseases,gastrointestinal diseases,and breast cancer.