He Mei, Yan Hong, Duan Zhao-Xia, Qu Wei, Gong Hai-Yan, Fan Zheng-Li, Kang Jian-Yi, Li Bing-Cang, Wang Jian-Min
Clinical Psychology Department of Southwest Hospital, Third Military Medical University, Chongqing 400038, China.
Int J Clin Exp Pathol. 2013 May 15;6(6):1142-9. Print 2013.
Dopamine D2 receptor is involved in reward-mediating mesocorticolimbic pathways. It plays an important role in major depressive disorder (MDD). Three gene polymorphisms Taq1A, C957T and -141C ins/del, were identified in the DRD2 gene among the Western population. These variants in the DRD2 gene might be associated with the susceptibility of MDD patients through affecting the bioeffects of endogenous dopamine neurotransmission. However, little is known about their occurrence in Chinese population and their association with the susceptibility of patients with major depressive disorder. In this study, a total of 338 unrelated adult Chinese Han population, including 224 healthy volunteers and 114 patients with major depressive disorder, were recruited. DRD2 polymorphisms (Taq1A and -141C ins/del) were detected using restriction fragment length polymorphism (RFLP) analysis and the C957T were detected by sequencing directly. As a result, three polymorphisms were identified in Chinese Han population and all were common SNP. However, we could detect no evidence of genetic association between 3 markers in DRD2 and major depressive disorder in the Chinese Han population. To conclude, this result suggests that Taq1A, C957T and -141C ins/del of DRD2 gene may not be associated with major depressive disorder, also may be the sample sizes too small to allow a meaningful test.
多巴胺 D2 受体参与介导奖赏的中脑皮质边缘通路。它在重度抑郁症（MDD）中起重要作用。在西方人群中，已在 DRD2 基因中鉴定出三种基因多态性：Taq1A、C957T 和 -141C ins/del。DRD2 基因中的这些变异可能通过影响内源性多巴胺神经传递的生物效应，与 MDD 患者的易感性相关。然而，关于它们在中国人群中的出现情况以及与重度抑郁症患者易感性的关联，所知甚少。在本研究中，共招募了 338 名无亲缘关系的成年中国汉族人群，包括 224 名健康志愿者和 114 名重度抑郁症患者。使用限制性片段长度多态性（RFLP）分析检测 DRD2 基因多态性（Taq1A 和 -141C ins/del），直接测序检测 C957T。结果，在中国汉族人群中鉴定出三种多态性，且均为常见单核苷酸多态性（SNP）。然而，在中国汉族人群中，我们未检测到 DRD2 基因中的 3 个标记与重度抑郁症之间存在遗传关联的证据。总之，该结果表明，DRD2 基因的 Taq1A、C957T 和 -141C ins/del 可能与重度抑郁症无关，也可能是样本量太小而无法进行有意义的检测。
