Association of promoter variants of human dopamine transporter gene with schizophrenia in Han Chinese
Association of promoter variants of human dopamine transporter gene with schizophrenia in Han Chinese
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DOI：
10.1016/j.schres.2009.10.004
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发表时间：
2010-01-01
影响因子：
4.5
通讯作者：
Lu, Ru-Band
中科院分区：
文献类型：
--
作者：
Huang, San-Yuan;Chen, Hsing-Kang;Lu, Ru-Band
目的：虽然多巴胺与精神分裂症的病因有关，但人类多巴胺转运蛋白基因（DAT 1; SLC 6A 3）并不总是与精神分裂症相关。本研究旨在探讨DAT 1基因的6个多态性是否与精神分裂症相关。DAT 1基因的六种多态性（启动子区3个SNP [rs6413429、rs 2652511和rs 2975226]，外显子9中1个SNP [rs6347]，对352例精神分裂症患者和311例健康对照者进行了SNP（rs 27072）/VNTR（variable number tandem repeat）分析。采用阳性和阴性综合征量表对160例住院的精神分裂症患者进行治疗前的精神病理学评估，这些患者均为无药物或药物初治患者。两种多态性存在统计学显着差异（rs 2652511和rs 2975226）和启动子区单倍型（rs 2652511、rs 2975226和rs6413429）。其他多态性和另一个单倍型（3'区）与精神分裂症无关联。症状的严重程度（PANSS全球，积极，消极和一般症状评分）是相似的，无论DAT 1 polymorphism.Conclusion：DAT 1基因的启动子区域可能发挥作用，增加精神分裂症的易感性，但不影响精神病症状的严重程度在中国汉族人。皇冠版权所有（C）2009年出版的爱思唯尔B. V.保留所有权利。
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-naive.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 Copyright (C) 2009 Published by Elsevier B.V. All rights reserved.