Muramatsu T, Higuchi S, Murayama M, Matsushita S, Hayashida M
National Institute on Alcoholism, Kurihama National Hospital, Japan.
J Med Genet. 1996 Feb;33(2):113-5. doi: 10.1136/jmg.33.2.113.
A point mutation in the aldehyde dehydrogenase 2 gene (ALDH2(2) allele) is considered to be a genetic deterrent for alcoholism; however, 80 of 655 Japanese alcoholics had the mutant allele. Genotype factors that might increase susceptibility by overriding the deterrent showed a higher frequency of a five repeat allele of the dopamine D4 receptor 48 bp repeat polymorphism in alcoholics with ALDH2(2) than in 100 other alcoholics and 144 controls. Alcoholics with the five repeat allele also abused other drugs more often. These data suggest the involvement of the dopamine system in the development of alcoholism and other addictive behaviour.
乙醛脱氢酶2基因中的一个点突变(ALDH2(2)等位基因)被认为是酒精中毒的一种遗传抑制因素;然而,655名日本酗酒者中有80人携带该突变等位基因。可能通过克服这种抑制因素而增加易感性的基因型因素显示,携带ALDH2(2)的酗酒者中多巴胺D4受体48碱基对重复多态性的五重复等位基因频率高于另外100名酗酒者和144名对照者。具有五重复等位基因的酗酒者也更常滥用其他药物。这些数据表明多巴胺系统参与了酒精中毒和其他成瘾行为的发生发展。