PTPN22基因多态性与自身免疫甲状腺病的相关性  

Association of polymorphism of protein tyrosine phosphatase nonreceptor-22 gene with AITD

作　　者：于志云[1] 张进安[1] 买尔哈巴[2] 王宇[1] 肖婉侠[1] 全瑛[1] 董宝宁[1] 

机构地区：[1]西安交通大学医学院第一附属医院内分泌科 [2]新疆医科大学第一附属医院内分泌科,新疆乌鲁木齐830054

出　　处：《细胞与分子免疫学杂志》2008年第8期804-807,共4页Chinese Journal of Cellular and Molecular Immunology

基　　金：陕西省科技攻关资助项目(2007k12-02)

摘　　要：目的:检测PTPN22基因的单核苷酸多态性(SNP)及其与中国人自身免疫甲状腺病(AITD)的相关性,并研究CTLA-4基因SNP与PTPN22 SNP的相互关系。方法:采用PCR-RFLP技术分析231例AITD患者,其中Graves’病(GD)149例,桥本甲状腺炎(HT)82例和131例健康对照者PT-PN22基因+1858 C>T及CTLA-4基因49A>G位点的基因型。采用SASP-PCR技术分析PTPN22基因启动子-1123G>C的基因型。结果:(1)PTPN22基因的+1858C>T位点不存在多态性;(2)PTPN22基因-1123G>C SNP的等位基因和基因型分布频率在GD组与正常对照组间的差异有统计学意义(P值分别为0.040和0.013,OR值分别为1.44和2.33);(3)CTLA-4基因49A>G位点的等位基因和基因型分布频率在AITD组与正常组间有明显差异;(4)与携带PTPN22的G等位基因及CTLA-4的AA基因型者相比,携带PTPN22CC基因型与CTLA-4 AG或GG基因型者发生GD的OR值=3.31(95%CI:2.69-8.89)。结论:PTPN22基因启动子-1123G>C SNP与GD的发生相关,其CC基因型与CTLA-4基因的G等位基因对GD的发生起协同作用。AIM： To evaluate the association of PTPN22 gene polymorphism with autoimmune thyroid disease（AITD） in Chinese people and to analyze the relationship between SNP of CTLA-4 gene and SNP of PTPN22 gene.METHODS： 149 patients with Graves＇ disease（GD） and 82 patients with Hashimoto＇s thyroiditis（HT） as well as 131 healthy people as controls were investigated.PTPN22 gene polymorphism ＋1858 C〉T and CTLA-4 gene polymorphism 49A〉G were determined by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）.PTPN22 gene polymorphism-1123G〉C at promoter was genotyped by single allele-specific primer polymerase chain reaction（SASP-PCR）.RESULTS：（1） ＋1858C〉T for PTPN22 gene was not polymorphic enough in patients and controls.（2） Statistic differences in alleles and genotype frequency of-1123G〉C were observed between GD patients and controls（P=0.040,0.013;OR=1.44,2.33,respectively）.（3） Differences in alleles and genotype frequency of 49A〉G for CTLA-4 gene were observed in patients and controls.（4） Individuals with PTPN22 CC genotype and CTILA-4 G alleles had an increased risk of developing GD（OR=3.31,95%CI： 2.69-8.89） compared with those with PTPN22 G alleles and CTLA-4 AA genotype.CONCLUSION：-1123 G〉C SNP of PTPN22 gene is associated with GD.There is coordination between PTPN22 CC genotype and CTLA-4 G alleles in the development of GD.

关 键 词：蛋白酪氨酸磷酸酶非受体型22基因 自身免疫性甲状腺病 单核苷酸多态性 

分 类 号：R593.2[医药卫生—内科学]