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  

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

作　　者：应俊[1] 邵海刚[2] 潘若望[3] 李佩珍[1] 张洪勤[1] 曾兴业[3] 

机构地区：[1]温州医学院生物学实验教学中心 [2]温州医学院检验医学院 [3]中国人民解放军第118医院外科,浙江温州325000

出　　处：《温州医学院学报》2012年第4期346-349,353,共5页Journal of Wenzhou Medical College

基　　金：温州市科技局科研基金资助项目(Y20090105)

摘　　要：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(OR=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。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 normai subjects and 150 cases of Hashimoto＇s thyroiditis subjects. Resuits： 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 （0R=1.616, 95%CI：1.142-2.285）, the same to the PTPN22-1123 C alleles （0R=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.

关 键 词：细胞毒性T淋巴细胞相关抗原-4 蛋白酪氨酸磷酸酶非受体型22基因 基因多态性 桥本甲状腺炎 温州地区 

分 类 号：R581.4[医药卫生—内分泌]