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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 genetic correlation between single nucleotide polymorphisms (SNPs) of helper T cell (Th) 1 and Th2 related interleukin (IL) gene and Graves’ disease. METHODS: A total of 18 SNPs of Th1-related IL-1α, IL-1β, IL-10 and IL-12A genes and Th2-related IL-3, IL-4, IL-5, IL-9 and IL- A high-throughput SNPstream chip technique was used for the case-control study in 751 Graves patients from Shanghai and 748 normal controls. Results: Among Th1 related ILs, rs1800587 located in IL-1α, rs1800896 and rs3021094 located in IL-10, and rs568408 located in IL-12A were all susceptible sites in Graves’ disease. Both the haplotype AACAT of IL-10 gene and the haplotype TTAAG of IL-12A gene lead to an increased risk of Graves disease. Among Th2-related ILs, the rs40401 site of IL-3 gene and the rs2069812 site of IL-5 gene are susceptibility sites for Graves’ disease, and there is risk additive effect between the two. Conclusion: There is a genetic correlation between Th1 and Th2-related IL gene polymorphisms and Graves disease.