基于核心家系的EGR3基因与精神分裂症的关联研究

doi:10.3724/SP.J.1005.2012.00307

遗传 ›› 2012, Vol. 34 ›› Issue (3): 307-314.doi: 10.3724/SP.J.1005.2012.00307

基于核心家系的EGR3基因与精神分裂症的关联研究

宁启兰¹, 马旭东¹, 焦李子¹, 牛晓蓉¹, 李建鹏¹, 王彬¹, 张欢², 马捷¹

1. 西安交通大学医学院遗传学与分子生物学系, 西安 710061 2. 西安交通大学第二附属医院精神科, 西安 710004

收稿日期:2011-06-10 修回日期:2011-09-26 出版日期:2012-03-20 发布日期:2012-03-25
通讯作者: 马捷 E-mail:majie@mail.xjtu.edu.cn
基金资助:
国家自然科学基金项目(编号: 30800618)和国家大学生创新性实验项目(编号: 101069863)资助

A family-based association study of the EGR3 gene polymorphisms and schizophrenia

NING Qi-Lan¹, MA Xu-Dong¹, JIAO Li-Zi¹, NIU Xiao-Rong¹, LI Jian-Peng¹, WANG Bin¹, ZHANG Huan², MA Jie¹

1. Department of Genetics and Molecular Biology, School of Medicine, Xi’an Jiaotong University, Xi’an 710061, China 2. Department of Psychiatry, the Second Affiliated Hospital, School of Medicine, Xi’an Jiaotong University, Xi’an 710004, China

Received:2011-06-10 Revised:2011-09-26 Online:2012-03-20 Published:2012-03-25
Contact: MA Jie E-mail:majie@mail.xjtu.edu.cn

摘要/Abstract

摘要： 研究表明位于染色体8p21.3区域的EGR3(Early growth response 3)是精神分裂症(Schizophrenia)的重要易感基因, 然而, 仍有两个病例-对照研究未能验证上述发现。为了研究EGR3基因在我国患者中是否与疾病关联, 文章在中国汉族的核心家系中选择EGR3基因座位上的5个SNPs位点(rs1996147、rs1877670、rs3750192、rs35201266和rs7009708)进行基因分型和传递不平衡检验(Transmission disequilibrium test, TDT)。结果表明遗传标记rs1996147和rs3750192分别显示出显著的传递不平衡(c²>4.40, P<0.05)。在连锁不平衡分析中, 由2个(rs3750192和rs35201266)、3个(rs1877670、rs3750192和rs7009708)以及4个(rs1996147、rs1877670、rs3750192和rs7009708)SNPs位点构建的单倍型均显示与精神分裂症显著性关联(c²>7.10, 整体P<0.05)。总之, EGR3基因与中国汉族人群精神分裂症遗传易感性相关, 后续关于EGR3基因进一步的功能研究将会更好的帮助我们了解该基因在疾病病理学机制中的作用。

关键词: 单倍型, 精神分裂症, EGR3, 传递不平衡检验(TDT), SNP

Abstract: Previous studies showed that EGR3 gene located in chromosome 8p21.3 was involved in the etiology of schizophrenia. However, the finding failed to be replicated in several case-control studies. To investigate the genetic role of the EGR3 gene in Chinese psychiatric patients, we genotyped five single nucleotide polymorphisms (SNPs) in EGR3 gene locus using 93 nuclear families in Han Chinese, and performed transmission disequilibrium test (TDT). In this study, two SNPs (rs1996147 and rs3750192) showed significant association with schizophrenia (c²>4.40, P<0.05). In the linkage disequilibrium analysis, the significant association was also found in two- (rs3750192-rs35201266), three- (rs1877670- rs3750192-rs7009708) and four-SNP (rs1996147-rs1877670-rs3750192-rs7009708) tests of haplotype analyses (c²>7.10, global P<0.05). Overall, the results suggested that EGR3 gene may play an important role in schizophrenia suscep-tibility in the Han Chinese population, and further functional exploration of the EGR3 gene will contribute to the underlying molecular mechanism for schizophrenia pathogenesis.

Key words: schizophrenia, EGR3, transmission disequilibrium test, SNP, haplotype

宁启兰，马旭东，焦李子，牛晓蓉，李建鹏，王彬，张欢，马捷. 基于核心家系的EGR3基因与精神分裂症的关联研究[J]. 遗传, 2012, 34(3): 307-314.

NING Qi-Lan, MA Xu-Dong, JIAO Li-Zi, NIU Xiao-Rong, LI Jian-Peng, WANG Bin, ZHANG Huan, MA Jie. A family-based association study of the EGR3 gene polymorphisms and schizophrenia[J]. HEREDITAS, 2012, 34(3): 307-314.

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基于核心家系的EGR3基因与精神分裂症的关联研究

A family-based association study of the EGR3 gene polymorphisms and schizophrenia

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