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

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

doi:10.1016/j.schres.2009.10.004

« Previous Next »Schizophrenia Research
Volume 116, Issue 1 , Pages 68-74, January 2010

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

San-Yuan Huang
- Department of Psychiatry, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC
- Corresponding author. Department of Psychiatry, Tri-Service General Hospital, No. 325, Sec. 2, Cheng-Kung Road, Nei-Hu District, Taipei, 114, Taiwan, ROC. Tel.: +011 886 2 8792 7220; fax: +011 886 2 8792 6715.
Hsing-Kang Chen
- Department of Psychiatry, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC
- General Psychiatric department, Yu-Li Hospital, Hualien, Taiwan, ROC
Kuo-Hsing Ma
- Department of Anatomy and Biology, National Defense Medical Center, Taipei, Taiwan, ROC
Mee-Jen Shy
- Department of Psychiatry, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC
- Department of Anatomy and Biology, National Defense Medical Center, Taipei, Taiwan, ROC
Jiun-Hsiung Chen
- Department of Psychiatry, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC
- Division of Psychiatry, GangShan Armed Forces Hospital, Kaohsiung, Taiwan, ROC
Wen-chi Lin
- Department of Psychiatry, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC
- Department of Nursing, Tri-Service General Hospital, Taipei, Taiwan, ROC
Ru-Band Lu
- Department of Psychiatry, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC
- Institute of Behavioral Medicine, Department of Psychiatry, College of Medicine, National Cheng Kung University, Tainan, Taiwan, ROC

Received 25 September 2008; received in revised form 28 September 2009; accepted 4 October 2009. published online 02 November 2009.

Abstract

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.

Keywords: Age of onset, Dopamine transporter gene, Promoter variants, Psychotic symptoms, Schizophrenia