Th1和Th2相关白介素基因多态性与Graves病的相关性研究  

A study on association between Th1 and Th2 related interleukin gene polymorphisms and Graves’ disease

作　　者：朱巍[1] 郭婷 刘楠[1] 崔斌[1] 王曙[1] 宁光[1] 王卫庆[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院内分泌代谢病科上海市内分泌代谢病临床医学中心上海市内分泌代谢病研究所,上海200025 [2]中国科学院上海生命科学研究院上海交通大学医学院健康科学研究所,上海200025

出　　处：《内科理论与实践》2013年第4期229-233,共5页Journal of Internal Medicine Concepts & Practice

摘　　要：目的:探讨辅助性T细胞(Th)1和Th2相关白介素(IL)基因单核苷酸多态性(SNP)与Graves病的遗传相关性。方法:选取Th1相关IL-1α、IL-1β、IL-10、IL-12A基因和Th2相关IL-3、IL-4、IL-5、IL-9、IL-13基因的共18个SNP,采用高通量SNPstream芯片技术检测,在751例来自上海的Graves病患者和748名正常对照者中进行病例对照研究。结果:Th1相关IL基因中,位于IL-1α的rs1800587、位于IL-10的rs1800896和rs3021094、位于IL-12A的rs568408均是Graves病的易感位点。IL-10基因的单倍型AACAT和IL-12A基因的单倍型TTAAG都可导致Graves病患病风险增加。Th2相关IL基因中,IL-3基因的rs40401位点和IL-5基因的rs2069812位点是Graves病的易感位点,且此两者存在风险叠加效应。结论:Th1和Th2相关IL基因多态性与Graves病有遗传相关性。Objective To investigate the association between single nucleotide polymorphims （SNPs） in helper T cell （Th）l and Th2 related interleukin genes and Graves＇ disease. Methods A total of 18 SNPs were chosen from Thl related interleukin （IL）-lα, IL-113, IL-10, IL-12A genes, and Th2 related IL-3, IL-4, IL-5, IL-9, IL-13 genes. The gene polymorphisms in 751 Graves＇ disease patients and 748 controls were detected by the SNPstream genotyping system. Results In Thl related IL gene polymorphisms, rs1800587 of IL-lα gene, rs1800896 and rs3021094 of 1L-IO gene, rs568408 of IL-12A gene were found to be significantly associated with risk of Graves＇ disease. Haplotype analysis showed that the frequency of AACAT in IL-10 gene and TFAAG in IL-12A gene were associated with the risk of Graves＇ disease. In Th2 related IL gene polymorphisms, rs40401 of IL-3 gene and rs2069812 of IL-5 gene were associated with Graves＇ disease susceptibility, and the CC （rs40401-rs2069812） haplotype conferred a high risk for Graves＇ disease. Conclusion The Thl/Th2 related IL gene polymorphisms were associated with Graves＇ disease susceptibility.

关 键 词：辅助性T细胞1 辅助性T细胞2 单核苷酸多态性 GRAVES病 白介素基因 

分 类 号：R581.1[医药卫生—内分泌]