Kibitov A O, Voskoboeva E Iu, Brodianskiĭ V M, Chuprova N A, Smirnova E V
Zh Nevrol Psikhiatr Im S S Korsakova. 2010;110(4):84-8.
The aim of this study was to investigate the association the Val158Met polymorphism of the catechol-O-methyltransferase (COMT) gene and predisposition to alcoholism and heroin dependence. The authors genotyped DNA samples from 964 Russian males (395 alcoholics, 243 heroin addicts and 326 healthy controls). The association between the Val158Met COMT polymorphism and alcoholism was found in males with high density of family history (two or more blood relatives with alcoholism within the family). In this group, the frequency of a L (Met) allele was significantly higher in comparison with controls (p=0,001), patients without family history (p=0,034) and patients with the mild density of family history (p=0,0005). The frequency of the HH (ValVal) genotype was reduced as well compared to the controls (p=0,003). In the group of heroin addicts with the mild density of family history, there was a trend to lower frequency of the HH genotype (p=0,058) compared to patients without family history. The results suggest that the functional Val158Met COMT polymorphism is one of the significant markers of genetic predisposition to addiction diseases.
本研究旨在调查儿茶酚-O-甲基转移酶（COMT）基因的Val158Met多态性与酒精中毒及海洛因依赖易感性之间的关联。作者对964名俄罗斯男性（395名酗酒者、243名海洛因成瘾者和326名健康对照者）的DNA样本进行了基因分型。在家族病史密集（家族中有两个或更多酗酒血亲）的男性中，发现Val158Met COMT多态性与酒精中毒之间存在关联。在该组中，L（Met）等位基因的频率与对照组（p = 0.001）、无家族病史的患者（p = 0.034）以及家族病史轻度的患者（p = 0.0005）相比显著更高。与对照组相比，HH（ValVal）基因型的频率也有所降低（p = 0.003）。在家族病史轻度的海洛因成瘾者组中，与无家族病史的患者相比，HH基因型的频率有降低趋势（p = 0.058）。结果表明，功能性Val158Met COMT多态性是成瘾性疾病遗传易感性的重要标志物之一。
