【摘要】 目的探讨CD40基因5’非翻译区（5’UTR）₁位点的C/T单核苷酸多态性（SNP）与广东汉族人群Graves病（GD）的易感相关性。方法采用病例-对照研究方法,对119例内分泌科门诊和住院GD患者和103例正常对照者进行研究。应用聚合酶链反应-限制性内切酶片段长度多态性（PCR-RFLP）技术测定CD40基因5’UTR₁位点的C/T单核苷酸多态性,计算基因型及等位基因频率。结果CD40基因5’UTR₁位点的基因型频率在GD组和对照组中的分布差异有显著性（2=14.152,P=0.010）,GD组的CC基因型频率明显高于对照组（47.9%vs24.3%,OR值=2.870,95%CI为1.612～5.105,P=0.000）,TT基因型频率明显低于对照组（16.0%vs29.1%,OR值=0.462,95%CI为0.242～0.885,P=0.018）,GD组的C等位基因频率明显高于对照组（66.0%vs47.6%,OR值=2.136,95%CI为1.456～3.133,P=0.004）。结论CD40基因5’UTR₁位点的C等位基因多态性可能与广东地区汉族Graves病发病相关。更多还原

【Abstract】 Objective To investigate the correlation between the single nucleotide polymorphism（SNP）of C/T in the CD40 gene of 5’ untranslated region（5’UTR）at position ₁ site and Graves’ disease（GD）in Guangdong Han population.Methods Totally 119 patients and 103 healthy controls were studied.The genotype and allele frequencies of CD40 gene 5’UTR at position ₁ site polymorphism were assayed by polymerase chain reaction-restrition fragment length polymorphism（PCR-RFLP）.Results Significance differences were observed in CD40 gene 5’UTR at position ₁ site between GD group and normal control group（χ2=14.152,P=0.010）.The CC genotype frequence was significantly higher in GD group than that in control（47.9% vs 24.3%;odds ratio,2.870;95%confidence interval,1.612⁵.105;P=0.000）.The TT genotype frequence was significantly lower in GD group than that in control group（16.0% vs 29.1%;odds ratio,0.462;95%confidence interval,0.242⁰.885;P=0.018）.The C allele frequencies were significantly higher in GD group than that in control（66.0% vs 47.6%;odds ratio,2.136;95%confidence interval,1.456³.133;P=0.004）.Conclusion The polymorphism of allele CD40 gene 5’UTR at position ₁ site is associated with the susceptibility to GD in Guangdong Han population.更多还原