title: Assessment of functional tag single nucleotide polymorphisms within the DRD2 gene as risk factors for post-traumatic stress disorder in the Han Chinese population.
abstract: BACKGROUND
  Gene variations related to the dopaminergic pathway have been implicated in a number of neuropsychiatric disorders, including post-traumatic stress disorder (PTSD). Dopamine D2 receptor (DRD2) has been shown to significantly contribute to neuropsychiatric disorders and may specifically contribute to predisposition to PTSD. This study aimed to evaluate the association of polymorphisms within the entire DRD2 gene with PTSD in a case-control study.
  
  
  METHODS
  A total of 834 unrelated Han Chinese adults, including 497 healthy volunteers and 337 patients with PTSD, were used in this study. Fifteen tag single-nucleotide polymorphisms (tSNPs) were selected spanning the entire DRD2 gene through the construction of haplotype bins. Genotypes were gathered using an improved multiplex ligation detection reaction (iMLDR) technique. Allelic frequencies and clinical characteristics were compared in two independent Han Chinese populations. Moreover, the functionality of the rs2075652 and rs7131056 polymorphisms were assessed by measuring transcriptional enhancer activities.
  
  
  RESULTS
  Fifteen tag SNPs were identified in the Han Chinese population and all were common SNPs. Among 15 tSNPs, two of them (rs2075652 and rs7131056) significantly associated with PTSD. PTSD individuals were more likely to carry the rs2075652A and rs7131056A allele compared to the controls (P<0.05). The haplotype GTGATCGCGCAGGCG, had a risk effect on PTSD occurrence (OR=1.75, 95% CI: 1.24-2.48, P=0.002). Additionally, the rs2075652 polymorphism contained intronic enhancer activities.
  
  
  CONCLUSIONS
  The rs2075652 and rs7131056 polymorphisms, and the haplotype GTGATCGCGCAGGCG within the DRD2 gene, may be potential markers to predict susceptibility to PTSD.
authors.affiliation: Department 6 of Research Institute of Surgery, Daping Hospital, Third Military Medical University, State Key Laboratory of Trauma, Burns and Combined Injury, Daping, Chongqing 400042, China. Electronic address: dzxcq@126.com.
authors.forename: Zhaoxia
authors.initials: Z
authors.lastname: Duan
authors.affiliation: Department of Clinical Psychology, Southwest Hospital, Third Military Medical University, Chongqing 400038, China.
authors.forename: Mei
authors.initials: M
authors.lastname: He
authors.affiliation: Department 6 of Research Institute of Surgery, Daping Hospital, Third Military Medical University, State Key Laboratory of Trauma, Burns and Combined Injury, Daping, Chongqing 400042, China.
authors.forename: Jieyuan
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department 6 of Research Institute of Surgery, Daping Hospital, Third Military Medical University, State Key Laboratory of Trauma, Burns and Combined Injury, Daping, Chongqing 400042, China.
authors.forename: Kuijun
authors.initials: K
authors.lastname: Chen
authors.affiliation: Department 6 of Research Institute of Surgery, Daping Hospital, Third Military Medical University, State Key Laboratory of Trauma, Burns and Combined Injury, Daping, Chongqing 400042, China.
authors.forename: Bingcang
authors.initials: B
authors.lastname: Li
authors.affiliation: Department 6 of Research Institute of Surgery, Daping Hospital, Third Military Medical University, State Key Laboratory of Trauma, Burns and Combined Injury, Daping, Chongqing 400042, China.
authors.forename: Jianmin
authors.initials: J
authors.lastname: Wang
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D016207:Cytokines / Q000097:blood; D004742:Enhancer Elements, Genetic / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017448:Receptors, Dopamine D2 / Q000097:blood / Q000235:genetics*; D012307:Risk Factors; D013313:Stress Disorders, Post-Traumatic / Q000235:genetics*
chemical_list: D016207:Cytokines; D017448:Receptors, Dopamine D2
keywords: Case-control study; Dopamine D2 receptor; Intronic enhancer; Post-traumatic stress disorder; Tag single nucleotide polymorphisms