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为探讨蛋白酪氨酸磷酸酶非受体型22(protein tyrosine phosphatase nonreceptor 22,PTPN22)基因1123G>C(rs2488457)单核苷酸多态性(SNP)与系统性红斑狼疮(systemic lupus erythematosus,SLE)的相关性。采用Taqman-MGB探针建立了1123G>C位点的实时荧光定量PCR的分型方法,对104例SLE患者、105例其他风湿病患者、101例健康体检者进行分型。同时采用间接免疫荧光法检测抗核抗体(ANA)、抗双链DNA(dsDNA)抗体。结果显示SLE组PTPN22基因SNP CC基因型与其他风湿病组及健康对照组有显著性差异(P<0.05),SLE组PTPN22基因CC基因型(基因频率:0.221)明显高于其他风湿病组(包括AS、SS、PBC组)、健康对照组(基因频率:0.030),其他风湿病组PTPN22基因SNPCC基因型与健康对照组无统计学意义(P>0.05),SLE组C等位基因频率为0.447明显高于其他风湿病组和健康对照组。此结果符合Hardy-Weinberg平衡定律。SLE组PTPN22各基因型ANA、抗ds DNA抗体差异无统计学意义(P>0.05)。因而PTPN22基因SNP与SLE患者有一定的相关性,由于SLE患者地区和种族差异,PTPN22基因变异位点可能不同。
To investigate the relationship between 1123G> C (rs2488457) single nucleotide polymorphism (SNP) and systemic lupus erythematosus (SLE) in protein tyrosine phosphatase nonreceptor 22 (PTPN22) ) Relevance. A Taqman-MGB probe was used to establish the real-time PCR method for 1123G> C locus. 104 cases of SLE, 105 cases of other rheumatic diseases and 101 cases of healthy subjects were classified. Indirect immunofluorescence was used to detect anti-nuclear antibody (ANA) and anti-dsDNA antibody. The results showed that SNP CC genotype of PTPN22 gene in SLE group was significantly different from other rheumatic diseases group and healthy control group (P <0.05). CC genotype (gene frequency: 0.221) of PTPN22 gene in SLE group was significantly higher than other rheumatic disease group Including AS, SS, PBC group) and healthy control group (gene frequency: 0.030). The other SNP genotypes of PTPN22 gene in other rheumatic diseases group were not significantly different from healthy control group (P> 0.05). The frequency of C allele in SLE group was 0.447 was significantly higher than other rheumatism group and healthy control group. This result is in line with the Hardy-Weinberg equilibrium law. There was no significant difference in ANA and anti-dsDNA antibody between PTPN22 genotypes in SLE group (P> 0.05). Thus PTPN22 gene SNP and SLE patients have a certain correlation, due to regional and ethnic differences in SLE patients, PTPN22 gene mutation sites may be different.