No association of the structural dopamine D2 receptor (DRD2) variant (311)Cys with alcoholism
No association of the structural dopamine D2 receptor (DRD2) variant (311)Cys with alcoholism
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DOI：
10.1111/j.1530-0277.1996.tb01087.x
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发表时间：
1996-05-01
影响因子：
3.2
通讯作者：
Rolfs, A
中科院分区：
文献类型：
--
作者：
Finckh, U;vonWiddern, O;Rolfs, A
人类多巴胺D2受体(DRD2)已被认为与酒精中毒的易感性和/或其严重性的改变有关。这一点得到了动物实验和药理学数据的支持。我们分析了312名德国酗酒者和131名与之相匹配的对照组的DRD2(311)Ser/Cys基因多态性，以探讨DRD2基因变异与酒精中毒或酒精者同种亚组临床特征的关系。我们没有观察到(311)Cys变异与酒精中毒之间的关联，评估的临床特征也没有与(311)Cys显著相关。(311)Cys等位基因频率在酗酒组为0.026，对照组为0.031。这些是高加索人中报道的最高(311)个半胱氨酸频率。同时对样本进行DRD2 TaqI A1/A2限制性片段长度多态性分析。在大多数情况下，(311)Cys等位基因与TaqIA2-等位基因相关。数据显示(311)半胱氨酸变异在酒精中毒中没有临床相关性。然而，不能排除该变异与其他疾病的相关性，或存在其他受体功能或表达改变的DRD2变异。
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 (311)Ser/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 (311)Cys variant and alcoholism, and none of the clinical characteristics evaluated was significantly associated with (311)Cys. The allele frequencies of the (311)Cys variant were 0.026 and 0.031 in the alcoholics and controls, respectively. These are the highest reported (311)Cys frequencies in Caucasians. The DRD2 TaqI A1/A2 restriction fragment length polymorphism was analyzed simultaneously in our samples. In most cases, the (311)Cys allele is associated with the TaqI A2-allele. Data do not suggest a clinical relevance of the (311)Cys 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.