γ干扰素基因多态性与自身免疫性甲状腺疾病易感性的关系

目的 探讨γ干扰素（IFN-γ）基因多态性与自身免疫性甲状腺疾病（autoinmune thyroid disease,AI-TD）发病易感性的关系.方法 选择汉族弥漫性毒性甲状腺肿（Graves disease,GD）患者（GD组）、桥本甲状腺炎（Hashimoto thyroiditis,HT）患者（HT组）和正常人（对照组）各100例,采用序列特异性引物聚合酶链反应检测等位基因和基因型.结果 GD组IFN-γ基因＋874位点A等位基因的频率明显高于对照组（83.5％ vs.70.5％,P＜0.01）;GD组IFN-γ＋874 AA基因型频率显著高于对照组（72.0％ vs.51.0％,P＜0.01）.HT组中IFN-γ＋ 874位点A及T等位基因的频率与对照组之间的差异无统计学意义（P＞0.05）.结论 在中国汉族人群中,GD患者和正常人之间存在IFN-γ基因＋874位点A等位基因分布的差异.IFN-γ基因＋874位点单核苷酸多态性可能是GD的易感因素.

Association of interferon-γ gene polymorphisms with susceptibility to autoinmune thyroid disease

Objective To explore the relationship between the single nucleotide polymorphism of interferon - （INF-γ） gene ＋ 874 site and susceptibility to autoinmune thyroid disease. Methods One hundred patients with Graves disease （ GD group）, 100 patients with Hashimoto thyroiditis （ HT group）, and 100 racially matched healthy con- trois （ control group） were studied. All the subjects were from Chinese Han population. Alleles and genotypes were determined by polymerase chain reaction and sequence specific primers （ PCR - SS）. Results The frequency of the variant A allele in the INF-γ gene ＋ 874 site in the GD group was significantly higher than that in the control group （83.5% vs. 70.5% ,P 〈0. 01 ）. The frequency of the AA genotype in the INF-γ gene ＋ 874 site in the GD group was significantly higher than that in the control group （72.0% vs. 51.0%, P 〈0.01 ）. But the frequency of the variant A and T allele in the INF-γ gene ＋ 874 site showed no statistically significant difference between the HT group and the control group （P 〉 0.05 ）. Conclusion In Chinese Han population, there are differences between GD patients and controls for frequen- cies of A allele in INF -γ gene ＋ 874 site. Interferon -γ gene ＋ 874 site single nucleotide polymorphism may contribute to increasing the susceptibility to GD.