Association of promoter variants of human dopamine transporter gene with schizophrenia in Han Chinese

San Yuan Huang, Hsing Kang Chen, Kuo Hsing Ma, Mee Jen Shy, Jiun Hsiung Chen, Wen chi Lin, Ru Band Lu

Research output: Contribution to journalArticlepeer-review

35 Citations (Scopus)


Objective: Although dopamine was implicated in the etiology of schizophrenia, the human dopamine transporter gene (DAT1; SLC6A3) has not consistently been associated with schizophrenia. The purpose of this study was to examine whether six polymorphisms within the DAT1 gene are associated with schizophrenia. Methods: Six polymorphisms of the DAT1 gene (3 SNPs [rs6413429, rs2652511, and rs2975226] in the promoter region, one SNP [rs6347] in exon 9, and one SNP [rs27072]/one variable number tandem repeat [VNTR] in exon 15) were analyzed in 352 Chinese patients with schizophrenia and in 311 healthy controls. Pretreatment psychopathology was assessed using the Positive and Negative Syndrome Scale in a subset of 160 hospitalized schizophrenia patients who were drug-free or drug-naïve. Results: A statistically significant difference in two polymorphisms (rs2652511 and rs2975226) and a promoter region haplotype (rs2652511, rs2975226, and rs6413429) was found between patients and healthy controls. No association with schizophrenia was found for other polymorphisms and another haplotype (3′ region). Symptoms severity (PANSS global, positive, negative and general symptoms scores) was similar regardless of DAT1 polymorphism. Conclusion: The promoter region of the DAT1 gene may play a role in increasing susceptibility to schizophrenia, but does not affect the severity of psychotic symptoms in Han Chinese. Crown

Original languageEnglish
Pages (from-to)68-74
Number of pages7
JournalSchizophrenia Research
Issue number1
Publication statusPublished - 2010 Jan

All Science Journal Classification (ASJC) codes

  • Psychiatry and Mental health
  • Biological Psychiatry


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