基础医学与临床 ›› 2016, Vol. 36 ›› Issue (9): 1246-1251.

• 研究论文 • 上一篇    下一篇

4P14区段和CTLA-4基因多态性与Graves病相关

葛绾宇1,孙卫华1,张晓梅1,赵文娣1,吴静1,赵双霞2,时照明1   

  1. 1. 蚌埠医学院第一附属医院
    2. 上海交通大学医学院附属瑞金医院
  • 收稿日期:2015-11-04 修回日期:2015-12-31 出版日期:2016-09-05 发布日期:2016-08-30
  • 通讯作者: 张晓梅 E-mail:zxm87517@163.com
  • 基金资助:
    安徽省教育厅重点项目

Associations of the 4P14 and CTLA-4 gene polymorphisms with graves’ disease

  • Received:2015-11-04 Revised:2015-12-31 Online:2016-09-05 Published:2016-08-30

摘要: 目的 探讨中国安徽蚌埠地区汉族人群4p14区段位点rs6832151和CTLA-4基因4个SNPs(单核苷酸多态性)位点基因多态性与Graves病相关性,和基因—基因交互作用对Graves病的影响。方法 提取611例诊断明确的GD患者和644例健康对照者的全基因组DNA,用TaqMan探针技术进行基因分型,使用Plink和Haploview等统计软件分析这些位点与蚌埠地区汉族人群Graves病的相关性。结果 4P14区段位点rs6832151的等位基因、基因型频率在GD组和对照组之间有差异(P<0.05),CTLA-4基因区域内rs231804和rs231726两个SNP位点基因型在显性模型下差异显著(P<0.05);GMDR模型显示CTLA-4基因内rs10197319、rs231726、rs231804、rs1024161位点和4P14区段内rs6832151位点组成的五阶模型(P=0.001)为最佳模型,CTLA-4基因内rs1024161和 rs10197319位点之间上位效应分析结果有差异(P<0.05)。结论 4p14区段rs6832151,CTLA-4基因区域内rs231804和rs231726位点基因多态性与蚌埠地区汉族人群Graves病的遗传易感性相关;rs6832151(4P14区段)和 rs10197319、rs231726、rs231804、rs1024161(CTLA-4基因)5个SNP位点间的基因-基因交互作用与Graves病相关,CTLA-4基因内rs1024161和rs10197319位点之间存在上位效应。

关键词: Graves病, 4P14, CTLA-4, 多态性,单核苷酸, 交互作用

Abstract: Objective To investigate the associations of the rs6832151 within chromosomal band 4P14 and four single-nucleotide polymorphisms (SNPs) in CTLA-4 gene with Graves’disease(GD)in a Chinese Han population from Bengbu city, Anhui province , as well as gene - gene interaction on Graves’disease .Methods A total of five SNPs were genotyped in a cohort of 611 GD patients and 644 healthy controls,by using the TaqMan SNP Genotyping Assay.The relation of these SNPs sites with GD were analyzed with Plink v1.07 and Haploview 4.0.Results An association was observed when the rs6832151 was directly analyzed or analyzed under three genetic models between GD and controls( P<0.05). The frequencies of genotypes under dominant model of SNPs in CTLA-4(rs231804, rs231726) were significantly different between GD and controls.Gene-gene interactions among Graves’ disease were significant (P=0.001) . Significant epistasis was found between rs1024161 and rs10197319 (P<0.05). Conclusion Polymorphism of the rs6832151(4P14)、rs231804 and rs231726(CTLA-4) were susceptible gene to Graves’ disease for a Chinese Han population from Bengbu city.A gene-gene interaction on Graves’ disease was identified among rs10197319、rs231726、rs231804、rs1024161(CTLA-4) and rs6832151(4P14).Epistatic interaction was observed between rs1024161 and rs10197319 in GD.

Key words: Graves’ disease, 4P14, CTLA-4, Polymorphism,single nucleotide, Interaction

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