乙醇脱氢酶1B（ADH1B）和乙醛脱氢酶2（ALDH2）基因多态性与酒精依赖的关联：一项来自印度的初步研究。
Association of ADH1B and ALDH2 gene polymorphisms with alcohol dependence: a pilot study from India.
作者信息
Vaswani Meera, Prasad Pushplata, Kapur Suman
机构信息
National Drug Dependence Treatment Centre, All India Institute of Medical Sciences, New Delhi, India.
出版信息
Hum Genomics. 2009 Apr;3(3):213-20. doi: 10.1186/1479-7364-3-3-213.
Functional polymorphism in the genes encoding alcohol dehydrogenase (ADH) 1B and aldehyde dehydrogenase (ALDH) 2 are considered most important among several genetic determinants of alcohol dependence, a complex disorder. There is no report on the widely studied Arg47His and Glu487Lys polymorphisms from Indian alcohol-dependent populations. In this paper, we report, for the first time, allelic and genotypic frequencies of Arg47His and Glu487Lys single nucleotide polymorphisms (SNPs) in North Indian alcohol-dependent subjects. A total of 174 alcohol-dependent males, recruited using DSM IV criteria (American Psychiatric Association, 1994), were genotyped using the polymerase chain reaction-restriction fragment length polymorphism method. The results obtained from genetic analysis were correlated with clinical parameters using Student's t-test or Mann Whitney's U test. The highlight of the study findings was the uniquely high frequency of the ALDH2*2/*2 genotype (among alcohol-dependent subjects) being a risk-conferring factor for alcohol dependence.
在酒精依赖这一复杂疾病的多个遗传决定因素中，编码乙醇脱氢酶（ADH）1B和乙醛脱氢酶（ALDH）2的基因中的功能多态性被认为是最为重要的。在印度酒精依赖人群中，关于被广泛研究的Arg47His和Glu487Lys多态性尚无报道。在本文中，我们首次报告了北印度酒精依赖受试者中Arg47His和Glu487Lys单核苷酸多态性（SNP）的等位基因和基因型频率。使用DSM-IV标准（美国精神病学协会，1994年）招募了总共174名酒精依赖男性，采用聚合酶链反应-限制性片段长度多态性方法对其进行基因分型。使用学生t检验或曼-惠特尼U检验将遗传分析获得的结果与临床参数进行关联。研究结果的亮点是ALDH2*2/*2基因型（在酒精依赖受试者中）作为酒精依赖风险因素的独特高频率。
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