Finckh U, von Widdern O, Giraldo-Velasquez M, Podschus J, Dufeu P, Sander T, Harms H, Schmidt L G, Rommelspacher H, Rolfs A
AG Molekulare Neurobiologie, Freie Universität Berlin, Germany.
Alcohol Clin Exp Res. 1996 May;20(3):528-32. doi: 10.1111/j.1530-0277.1996.tb01087.x.
The human dopamine D2 receptor (DRD2) has been implied in the vulnerability for alcoholism and/or the modification of its severity. This is supported through animal experimental and pharmacological data. We analyzed the DRD2 311Ser/Cys polymorphism in 312 German alcoholics and 131 ethnically matched controls to investigate the association of genetic DRD2 variants with alcoholism or clinical characteristics of homogeneous subgroups of alcoholics. We observed no association between the 311Cys variant and alcoholism, and none of the clinical characteristics evaluated was significantly associated with 311Cys. The allele frequencies of the 311Cys variant were 0.026 and 0.031 in the alcoholics and controls, respectively. These are the highest reported 311Cys frequencies in Caucasians. The DRD2 TaqI A1/A2 restriction fragment length polymorphism was analyzed simultaneously in our samples. In most cases, the 311Cys allele is associated with the TaqI A2-allele. Data do not suggest a clinical relevance of the 311Cys variant in alcoholism. However, the relevance of this variant in other diseases or the existence of other DRD2 variants with altered receptor function or expression cannot be excluded.
人类多巴胺D2受体（DRD2）被认为与酒精中毒的易感性和/或其严重程度的改变有关。动物实验和药理学数据支持了这一点。我们分析了312名德国酗酒者和131名种族匹配对照者的DRD2 311Ser/Cys多态性，以研究DRD2基因变异与酒精中毒或酗酒者同质亚组临床特征之间的关联。我们观察到311Cys变异与酒精中毒之间无关联，且所评估的临床特征均与311Cys无显著关联。311Cys变异的等位基因频率在酗酒者和对照者中分别为0.026和0.031。这些是高加索人中报道的最高311Cys频率。我们同时分析了样本中的DRD2 TaqI A1/A2限制性片段长度多态性。在大多数情况下，311Cys等位基因与TaqI A2等位基因相关。数据并不表明311Cys变异在酒精中毒中有临床相关性。然而，不能排除该变异在其他疾病中的相关性或存在其他受体功能或表达改变的DRD2变异。
