中国南方人群CD40基因多态性与Grave's病的相关性研究

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名广东汉族人群GD患者和103名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（X2＝14.152，P＝0.010），GD组的CC基因型频率明显高于对照组（47.9% vs 24.3%,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% vs 29.1%,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% vs 47.6%,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。 关键词]： CD40 Graves病 基因多态性

Association analysis between CD40 gene polymorphism and Graves’ disease in southern population of China

Abstract:Object To investigate the association 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 In total 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 Remarkable significance were observed in CD40 gene 5’UTR at position _1 site between GD group and normal control group（X2＝14.152，P＝0.010）.The CC genotype frequence was significantly higher in GD group than 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 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 in control（ 66.0% vs 47.6%; odds ratio,2.136;95％confidence interval ,1.456-3.133;P=0.004）. Conclusions The polymorphism of allele CD40 gene 5’UTR at position _1 site is associated with the susceptibility to GD in Guangdong Han population. Key words:CD40; Graves’ disease; gene polymorism