广东汉族人群CD40基因多态性与Graves病的相关性

Correlation between CD40 gene polymorphism and Graves' disease in Guangdong Han population of south China

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’UTR_1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’UTR_1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’UTR_1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。

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（ X^2 = 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. 612 - 5. 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. 242 -0. 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. 456 -3. 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 Hart population.