PTPN22基因启动子-1123G＞C多态性与温州地区桥本甲状腺炎的相关性研究  

Study on the relationship between PTPN22-1123G>C gene polymorphism and Hashimoto′s Thyroiditis in Wenzhou population

作　　者：潘若望[1] 张恩勇[1] 梅文杰[1] 曹晓恩[1] 黄大道[1] 应俊[2] 曾兴业[1] 

机构地区：[1]中国人民解放军第118医院,浙江温州325000 [2]温州医学院生物实验教学中心,浙江温州325000

出　　处：《中国卫生检验杂志》2012年第2期240-241,246,共3页Chinese Journal of Health Laboratory Technology

基　　金：温州市科技局项目(Y20090105)

摘　　要：目的:了解温州地区汉族人群PTPN22基因启动子-1123G>C位点的基因型分布;探讨该基因单核苷酸多态性与桥本甲状腺炎的关系。方法:运用单一等位基因特异性引物-聚合酶链式反应技术(PCR-SASP)测定无亲缘关系的270例温州地区汉族人群的PTPN基因启动子-1123位点单核苷酸多态性(正常对照组120例,桥本甲状腺炎组150例)。结果:桥本甲状腺炎组PTPN22基因启动子-1123位点的GG、GC和CC基因型频率分别为0.207、0.627和0.167,基因G和C频率分别为0.520和0.480;正常对照组基因型表达频率分别为0.375、0.475和0.150,G和C基因频率分别为0.613和0.388;PTPN22基因启动子-1123位点多态性的分布频率在对照组和病例组间差别有统计学意义(χ2=9.57,P<0.05),且C基因频率在病例组中显著高于对照组(χ2=4.633,P<0.05)。结论:PTPN基因启动子-1123G>C SNP与温州地区汉族人群桥本甲状腺炎的发生有相关性,-1123 C基因是HT的易感基因。Objective：To study the genotype distribution of FFPN22 - 1123G 〉 C in Han population in Wenzhou area, and discuss the relation between single nueleotide polymorphism of PTPN22 - 1123G 〉 C gene and Hashimoto＇s thyroiditis patients. Methods： The genotypes of PTPN22 -1123G 〉 C were determined by polymerase chain reaction -single allele specific primer （PCR- SASP） assay in 270 unrelated subjects of Wenzhou Han population,including 120 normal subjects （the control group）, 150 cases of Hashimoto＇s thyroiditis subjects（ the ease group）. Results： In patients with Hashimoto＇s thyroiditis, the frequencies of genotype GG, GC and CC were 0.207, 0. 627 and 0. 167 respectively, while in control group, they were 0. 375,0.475 and 0. 150 respectively. The frequencies of G and C gene were 0. 520, 0. 480 in patients with Hashimoto＇s thyroiditis and 0. 613 and 0.388 in control group respectively. The genotype frequency of PTPN22 - 1123G 〉 C in the control group and the case group had a significant difference （x^2 =9.57 ,P 〈0.05）. The -1123 C frequency was significantly higher in the patients with Hashimoto＇s thyroiditis than the control group （x^2 = 4.633,P 〈 0.05）. Conclusion： These data indicated that SNP of PTPN22 - 1123G 〉 C gene was possibly associated with Hashimoto＇s thyroiditis in Han population in Wenzhou area and - 1123 C gene was the suscep- tibility gene of HT.

关 键 词：PTPN22 -1123G>C 启动子 基因多态性 桥本甲状腺炎 温州地区 汉族 

分 类 号：R581.4[医药卫生—内分泌]