Arinami T, Itokawa M, Komiyama T, Mitsushio H, Mori H, Mifune H, Hamaguchi H, Toru M
Department of Medical Genetics, University of Tsukuba, Ibaraki, Japan.
Biol Psychiatry. 1993 Jan 15;33(2):108-14. doi: 10.1016/0006-3223(93)90309-2.
The allelic association of TaqI A restriction fragment length polymorphism (RFLP) of the dopamine D2 receptor gene with alcoholism was examined in 78 Japanese alcoholics and compared with Japanese controls. A significantly higher frequency of the A1 allele (0.42) was found in 100 Japanese unscreened controls compared with those reported in white populations. Among 70 alcoholics whose severities were determined, the A1 allele was present in 77% of 43 more severe alcoholics and in 59% of 27 less severe alcoholics. The A1 allele was present significantly less frequently in the alcoholics at the age of 60 or older (42%), compared with those under the age of 60 (74%). In the subjects under the age of 60, the A1 allele was present in 83% of the 35 more severe alcoholics, being significantly more frequent than in 60% of the 35 nonalcoholic controls. All of the 7 alcoholics homozygous for the A1 allele were classified as severe. The average severity of alcoholism increased in the order A2/A2, A1/A2, and A1/A1 genotypes. These data suggest that the A1 allele is associated with severe alcoholism in the Japanese population and that the effect is related to or has a linkage disequilibrium with a genetic factor that has a small but not negligible additive effect on alcoholism.
在78名日本酗酒者中检测了多巴胺D2受体基因的TaqI A限制性片段长度多态性（RFLP）与酗酒的等位基因关联，并与日本对照组进行了比较。在100名未经筛选的日本对照组中发现A1等位基因的频率（0.42）明显高于白人人群中的报道频率。在70名已确定严重程度的酗酒者中，43名病情较重的酗酒者中有77%存在A1等位基因，27名病情较轻的酗酒者中有59%存在该等位基因。60岁及以上的酗酒者中A1等位基因的出现频率（42%）明显低于60岁以下的酗酒者（74%）。在60岁以下的受试者中，35名病情较重的酗酒者中有83%存在A1等位基因，明显高于35名非酗酒对照组中的60%。所有7名A1等位基因纯合的酗酒者都被归类为重度酗酒者。酗酒的平均严重程度按A2/A2、A1/A2和A1/A1基因型的顺序增加。这些数据表明，A1等位基因与日本人群中的重度酗酒有关，并且这种影响与对酗酒有微小但不可忽视的累加效应的遗传因素相关或存在连锁不平衡。
