上海交通大学学报（医学版）

上海交通大学学报（医学版）

• 论著（临床研究） • 上一篇    下一篇

中国汉族人群5-羟色胺转运体基因启动子区多态性与精神分裂症的关联研究

井绪秀，张燃，高可润，孙世帮，钱伊萍，易正辉，李华芳，禹顺英   

  1. 上海交通大学 医学院附属精神卫生中心， 上海 200030
  • 出版日期:2016-04-28 发布日期:2016-05-26
  • 通讯作者: 禹顺英, 电子信箱: yushuny@yahoo.com。
  • 作者简介:井绪秀（1990—）， 女， 硕士生; 电子信箱: dr.jing@live.com。
  • 基金资助:

    上海交通大学医工交叉研究基金（YG2014MS38）

Study on the correlation between the polymorphism in promoter region of 5-hydroxytryptamine transporter gene and schizophrenia in Chinese Han population

JING Xu-xiu, ZHANG Ran, GAO Ke-run, SUN Shi-bang, QIAN Yi-ping, YI Zheng-hui, LI Hua-fang, YU Shun-ying   

  1. Shanghai Mental Health Center， Shanghai Jiao Tong University School of Medicine， Shanghai 200030， China
  • Online:2016-04-28 Published:2016-05-26
  • Supported by:

    Biomedical Engineering Cross Research Foundation of Shanghai Jiao Tong University，YG2014MS38

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摘要：

目的 探讨中国汉族人群5-羟色胺转运体基因（SLC6A4）启动子区5-HTTLPR和rs25531（A>G）与精神分裂症之间的关系。方法 应用聚合酶链反应以及限制性片段长度多态性（PCR-RFLP）技术对624例精神分裂症患者和683例健康对照志愿者进行基因分型。结果 5-HTTLPR基因分型的结果包括short（S）等位基因、long（L）等位基因，以及extra-long（XL）等位基因。病例组和对照组5-HTTLPR基因型分布差异有统计学意义，S/XL基因型是精神分裂症的危险因素（P=0.042，OR=1.79，95%CI  1.01~3.17）；病例组和对照组5-HTTLPR-rs25531基因型分布差异有统计学意义，S/XLA和LG/XLA基因型是精神分裂症的危险因素（P=0.042，OR=1.79，95%CI  1.01~3.17；P=0.034，OR=3.69，95%CI  1.01~13.48）。结论 SLC6A4基因启动子区多态5-HTTLPR和rs25531（A>G）与中国汉族人群精神分裂症存在关联性。

关键词: 精神分裂症, 基因多态性, SLC6A4, 5-HTTLPR, rs25531, 关联研究

Abstract:

Objective To explore the correlation between 5-HTTLPR and rs25531(A>G) in the promoter region of 5-hydroxytryptamine transporter gene (SLC6A4) and schizophrenia in Chinese Han population. Methods 624 patients with schizophrenia and 683 healthy controls were genotyped with polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) technique. Results The genotypes of 5-HTTLPR included short (S), long (L), and extra-long (XL) alleles. The difference in distribution of 5-HTTLPR genotypes between the case group and the control group was statistically significant. S/XL genotype was a risk factor of schizophrenia (P=0.042, OR=1.79, 95%CI1.01-3.17). The difference in distribution of 5-HTTLPR-rs25531 genotypes between the case group and the control group was statistically significant. S/XLA and LG/XLA genotypes were risk factors of schizophrenia (P=0.042, OR=1.79, 95%CI1.01-3.17; P=0.034, OR=3.69, 95%CI  1.01-13.48). Conclusion The polymorphism of 5-HTTLPR and rs25531(A>G) in the promoter region of SLC6A4 gene is associated with schizophrenia in Chinese Han population.

Key words: schizophrenia, gene polymorphism, SLC6A4, 5-HTTLPR, rs25531, association study