Billett E A, Richter M A, Sam F, Swinson R P, Dai X Y, King N, Badri F, Sasaki T, Buchanan J A, Kennedy J L
Neurogenetics Section, Clarke Institute of Psychiatry, University of Toronto, Canada.
Psychiatr Genet. 1998 Autumn;8(3):163-9. doi: 10.1097/00041444-199800830-00005.
Evidence from anatomical, pharmacological, and animal studies on the involvement of the dopamine system in obsessive-compulsive disorder (OCD) is mounting. This, along with evidence for a genetic diathesis provided by family and twin studies, prompted us to conduct genetic association studies of dopamine system genes in OCD. We genotyped OCD patients (n > 100) and matched controls for four loci: (1) a 40-base-pair repeat in the dopamine transporter gene; (2) the TaqIA polymorphism and the serine/cysteine variation in the D2 dopamine receptor gene; (3) an MscI polymorphism in the D3 dopamine receptor gene; and (4) a 48-base-pair repeat in the D4 dopamine receptor gene. Significant differences in allele frequencies were found between patients and controls for the D4 receptor gene, although replication is required with family-based controls before any conclusions can be entertained. This study represents the first comprehensive assessment of the roles of dopamine system genes in OCD.
来自解剖学、药理学及动物研究的证据表明，多巴胺系统与强迫症（OCD）有关，且此类证据越来越多。这一点，再加上家族和双胞胎研究提供的遗传易感性证据，促使我们开展强迫症患者多巴胺系统基因的遗传关联研究。我们对100多名强迫症患者及相匹配的对照者的四个基因座进行了基因分型：（1）多巴胺转运体基因中的一个40个碱基对的重复序列；（2）D2多巴胺受体基因中的TaqIA多态性和丝氨酸/半胱氨酸变异；（3）D3多巴胺受体基因中的MscI多态性；（4）D4多巴胺受体基因中的一个48个碱基对的重复序列。尽管在得出任何结论之前需要采用基于家族的对照进行重复验证，但在患者与对照者之间发现了D4受体基因的等位基因频率存在显著差异。这项研究首次全面评估了多巴胺系统基因在强迫症中的作用。
