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目的:研究九江汉族人群TLR2基因多态性与Graves病的易感关系。方法:本研究采用特异性引物PCR方法,基于病例-对照研究的实验设计,对333例甲亢病例和368例正常对照的TLR2基因上的rs3804100和rs5743705位点进行了基因分型。结果:患者男女比例约为1∶2.6,女性有更高的患病风险;所有位点均符合哈迪-温伯格平衡。没有在总体病例、对照之间观察到多态位点基因型和等位基因频率的显著差异。然而,在对发病年龄和性别进行分层分析后发现,在GD早发病人中(≤40岁),SNP位点rs3804100的A/A基因型(P=0.013,OR=1.53,95%CI=1.11-2.12)以及A等位基因频率(P=0.020;OR=1.37;95%CI=1.05-1.79)显著高于正常对照组。结论:TLR2基因rs3804100位点的A/A基因型可能会显著增加人群40岁以前患GD的风险。
Objective: To study the relationship between TLR2 gene polymorphism and Graves’ disease in Jiujiang Han population. Methods: In this study, specific primer PCR method was used to genotype the rs3804100 and rs5743705 loci in 333 cases of hyperthyroidism and 368 normal controls based on the experimental design of case-control study. Results: The male to female ratio was approximately 1: 2.6 in women, and women had a higher prevalence of disease; all sites were in accordance with Hardy-Weinberg equilibrium. There was no significant difference in the genotype and allele frequencies of polymorphic loci observed between controls in the overall case. However, in stratified analysis of age and sex of onset, A / A genotype of SNP rs3804100 (P = 0.013, OR = 1.53, 95% CI = 1.11-2.12) and A allele frequencies (P = 0.020; OR = 1.37; 95% CI = 1.05-1.79) were significantly higher than those in the normal controls. Conclusion: The A / A genotype of TLR2 at rs3804100 may significantly increase the risk of GD in people over 40 years of age.