Osier M V, Lu R-B, Pakstis A J, Kidd J R, Huang S-Y, Kidd Kenneth K
Department of Genetics, SHM I-353, Yale University School of Medicine, 3334 Cedar Street, New Haven, CT 06520, USA.
Am J Med Genet B Neuropsychiatr Genet. 2004 Apr 1;126B(1):19-22. doi: 10.1002/ajmg.b.20136.
In recent studies of the role of the alcohol dehydrogenase genes (ADH) in alcoholism the ADH1B Arg47His polymorphism appears to affect risk via a protective effect associated with the ADH1B*47His. Here we present evidence for an additional effect from outside the Class I ADH genes, presumably from functional variation at the ADH7 gene. The protective effect is restricted to one of two haplotypes identical at ADH1B but differing at an intronic SNP at ADH7 suggesting epistasis or strong linkage disequilibrium (LD).
在近期关于酒精脱氢酶基因（ADH）在酒精中毒中作用的研究中，ADH1B Arg47His多态性似乎通过与ADH1B*47His相关的保护作用来影响风险。在此，我们提供证据表明，I类ADH基因之外存在额外效应，推测来自ADH7基因的功能变异。这种保护作用仅限于ADH1B相同但ADH7内含子单核苷酸多态性不同的两种单倍型中的一种，提示存在上位性或强连锁不平衡（LD）。
