酒精脱氢酶基因与酒精依赖的关联：一项综合分析。
Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis.
作者信息
Edenberg Howard J, Xuei Xiaoling, Chen Hui-Ju, Tian Huijun, Wetherill Leah Flury, Dick Danielle M, Almasy Laura, Bierut Laura, Bucholz Kathleen K, Goate Alison, Hesselbrock Victor, Kuperman Samuel, Nurnberger John, Porjesz Bernice, Rice John, Schuckit Marc, Tischfield Jay, Begleiter Henri, Foroud Tatiana
机构信息
Indiana University School of Medicine, Indianapolis, USA.
出版信息
Hum Mol Genet. 2006 May 1;15(9):1539-49. doi: 10.1093/hmg/ddl073. Epub 2006 Mar 28.
Linkage evidence indicated that gene(s) located on chromosome 4q, in the region of the alcohol dehydrogenase (ADH) genes, affected risk for alcoholism. We genotyped 110 single nucleotide polymorphisms (SNPs) across the seven ADH genes and analyzed their association with alcoholism in a set of families with multiple alcoholic members, using the pedigree disequilibrium test. There was strong evidence that variations in ADH4 are associated with alcoholism: 12 SNPs were significantly associated. The region of strongest association ran from intron 1 to 19.5 kb beyond the 3' end of the gene. Haplotype tag SNPs were selected for the block in the ADH4 gene that provided evidence of association and subsequently used in association analysis; the haplotype was significantly associated with alcoholism (P=0.01) There was weaker evidence that variations in ADH1A and ADH1B might also play a role in modifying risk. Among African-Americans, there was evidence that the ADH1B*3 allele was protective.
连锁证据表明，位于4号染色体q区、酒精脱氢酶（ADH）基因所在区域的基因影响酗酒风险。我们对7个ADH基因中的110个单核苷酸多态性（SNP）进行了基因分型，并使用系谱不平衡检验分析了它们与一组有多个酗酒成员的家庭中酗酒情况的关联。有强有力的证据表明，ADH4基因的变异与酗酒有关：12个SNP与酗酒显著相关。最强关联区域从内含子1延伸至基因3'端下游19.5 kb处。为ADH4基因中提供关联证据的区域选择了单倍型标签SNP，随后用于关联分析；该单倍型与酗酒显著相关（P=0.01）。有较弱的证据表明，ADH1A和ADH1B基因的变异可能也在改变风险方面发挥作用。在非裔美国人中，有证据表明ADH1B*3等位基因具有保护作用。
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