CTLA-4、PTPN22基因多态性与温州地区汉族人桥本甲状腺炎的相关性

目的:探讨CTLA-4外显子1+49A＞G位点(rs231775)、PTPN22启动子-1123G＞C位点(rs2488457)基因多态性与温州地区汉族人群桥本甲状腺炎(HT)的相关性.方法:采用病例-对照的方法,用聚合酶链反应-限制性片段长度多态性( PCR-RFLP)及单一等位基因特异性引物-聚合酶链式反应技术(PCR-SASP)比较150例桥本甲状腺炎组与120例正常人对照组之间基因型、等位基因频率的差异.结果:HT组和对照组CTLA-4外显子1+49位点和PTPN22基因启动子-1123位点的基因型和等位基因频率的差异均有统计学意义.经等位基因频率的相对风险分析发现,CTLA-4外显子1+49位点G等位基因携带者患HT的风险是A等位基因的1.616倍(OR=1.616,95％CI:1.142～2.285),PTPN22启动子-1123位点C等位基因携带者患HT的风险是G等位基因的1.459倍(0R=1.459,95％CI:1.034 - 2.059).结论:CTLA-4外显子1+49A＞G、PTPN基因启动子-1123G＞C SNP与温州地区汉族人群HT的发生有相关性,CTLA-4外显子1+49G、PTPN22启动子-1123 C基因是HT的易感基因.

Study on the correlation between CTLA-4, PTPN22 gene polymorphism and Hashimoto' s thyroiditis in Wenzhou population

Objective: To study the genotype distribution of CTLA-4 +49 A>G and PTPN22-1123G >C in Han population in Wenzhou area,and discuss their correlation with Hashimoto’s thyroiditis patients.Methods: The genotypes of CTLA-4 +49 A>G were determined PCR-RFLP and the genotypes of PTPN22-1123G>C were determined with polymerase chain reaction-single allele specific primer(PCR-SASP) assay in 270 unrelated subjects of Wenzhou Han population,including 120 normal subjects and 150 cases of Hashimoto’s thyroiditis subjects.Results: CTLA-4 gene of rs231775 and PTPN22 gene of rs2488457 had significant differences in genotypes and alleles frequency in Hashimoto’s thyroiditis and control group.The CTLA-4 +49G alleles carriers were associated with a significantly increased risk of HT as compared with the non-carriers(OR=1.616,95%CI:1.142～2.285),the same to the PTPN22-1123 C alleles(OR=1.459,95%CI:1.034～2.059).Conclusion: These data indicated that CTLA-4 +49 A>G and PTPN22-1123G>C gene were possibly associated with Hashimoto’s thyroiditis in Han population in Wenzhou area.