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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 investigate the genotype distribution of -123G> C locus of PTPN22 gene promoter in Han population in Wenzhou area and to explore the relationship between single nucleotide polymorphisms of this gene and Hashimoto’s thyroiditis. Methods: Single nucleotide polymorphisms (SNPs) of PTPN gene at promoter-123 locus in 270 Han unrelated Chinese Han population were determined by polymerase chain reaction-specific polymerase chain reaction (PCR-SASP) 120 cases of normal control group, Hashimoto’s thyroiditis group 150 cases). Results: The frequencies of GG, GC and CC genotypes at PTPN22 promoter-1123 in Hashimoto’s thyroiditis group were 0.207, 0.627 and 0.167, respectively. The frequencies of G and C genes were 0.520 and 0.480, respectively. The frequencies of genotypes 0.375, 0.475 and 0.150 respectively, and the frequencies of G and C genes were 0.613 and 0.388, respectively. The distribution frequency of PTPN22 gene promoter-1123 polymorphism was significantly different between the control group and the case group (χ2 = 9.57, P <0.05), and the frequency of C gene in the case group was significantly higher than that in the control group (χ2 = 4.633, P <0.05). CONCLUSION: The -1123G> C SNP of PTPN gene is associated with the occurrence of Hashimoto’s thyroiditis in Han nationality in Wenzhou. The -1123C gene is a susceptibility gene to HT.