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Int J Clin Exp Pathol 2013;6(6):1142-1149

Original Article
Genetic distribution and association analysis of DRD2 gene polymorphisms with major
depressive disorder in the Chinese Han population

Mei He, Hong Yan, Zhao-Xia Duan, Wei Qu, Hai-Yan Gong, Zheng-Li Fan, Jian-Yi Kang, Bing-Cang Li, Jian-Min Wang

Clinical Psychology Department of Southwest Hospital, Third Military Medical University, Chongqing 400038, China; Institute of Burn Research,
Southwest Hospital, State Key Laboratory of Trauma, Burns and Combined Injury, The Third Military Medical University, Chongqing 400038,
China; Department of Research Institute of Surgery, Daping Hospital, Third Military Medical University, State Key Laboratory of Trauma, Burns
and Combined Injury, Chongqing 400042, China; Prevention and Health Maintenance Department of Southwest Hospital, Third Military Medical
University, Chongqing 400038, China; Mental Health Center of Chongqing, Chongqing 400036, China

Received February 3, 2013; Accepted April 11, 2013; Epub May 15, 2013; Published June 1, 2013

Abstract: 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. (IJCEP1302001).

Keywords: Dopamine D2 receptor, polymorphism, major depressive disorder

Address correspondence to: Dr. Hong Yan, Institute of Burn Research, State Key Laboratory of Trauma, Burn and Combined Injury, Southwest
Hospital, Third Military Medical University, Chongqing 400038, China. Tel: +86-23-68754148; Fax: +86-23-65461696; E-mail:
yanhong47@gmail.com; Dr. Zhao-Xia Duan, Research Institute of Surgery, Daping Hospital, Third Military Medical University, Daping,
Chongqing 400042, China. Phone/Fax: +86-23-68757460; E-mail: dzxcq@126.com