PTPN22、TNF-α基因多态性与汉族人群自身免疫性血小板减少症的关系研究  

Association of PTPN22 and TNF-αgene polymorphisms with autoimmune thrombocytopenia in Han population

作　　者：万红 李宝林 杨平 李婷婷 WAN Hong;LI Bao-Lin;YANG Ping;LI Ting-Ting(Department of Medical Laboratory,Affiliated Hospital of Southwestern Medical University,Luzhou 646000,China)

机构地区：[1]西南医科大学附属医院医学检验部,泸州646000

出　　处：《中国免疫学杂志》2020年第21期2645-2650,共6页Chinese Journal of Immunology

摘　　要：目的:探讨非受体型蛋白酪氨酸磷酸酶22(PTPN22)、肿瘤坏死因子-α(TNF-α)基因多态性与汉族人群自身免疫性血小板减少症的关系。方法:选取2018年1月~2019年5月我院收治的汉族自身免疫性血小板减少症患者100例,配对选取同时间段体检中心接收的300例汉族健康志愿者,分别记为疾病组和健康组。两组均提取外周血基因组DNA检测外周血细胞PTPN22、TNF-α基因多态性,对比两组PTPN221123位点、TNF-α863位点基因多态性,采用Logistic回归分析探讨二者与汉族人群自身免疫性血小板减少症关系。结果:疾病组PTPN221123位点CC、CG、GG基因型分布与健康组相比差异有统计学意义(P<0.05),且其G等位基因频率明显高于健康组(P<0.05);疾病组TNF-α863位点CC、CA、AA基因型分布与健康组相比差异有统计学意义(P<0.05),且其A等位基因频率明显高于健康组(P<0.05);经Logistic回归分析可知,PTPN221123位点G突变、TNF-α863位点A突变、免疫增强剂应用史、病毒感染、遗传史均是汉族人群自身免疫性血小板减少症的危险因素(OR=6.903、7.965、5.966、6.994、6.443,P<0.05)。结论:汉族人群PTPN22、TNF-α基因多态性均可影响自身免疫性血小板减少症的发生风险,其中PTPN221123位点G突变、TNF-α863位点A突变、免疫增强剂应用史等均是其危险因素。Objective:To explore the relationship between polymorphisms of non-receptor protein tyrosine phosphatase 22(PTPN22)and tumor necrosis factor-α(TNF-α)genes and autoimmune thrombocytopenia in Han population.Methods:A total of 100 patients with autoimmune thrombocytopenia of Han nationality were selected from January 2018 to May 2019 who come to our hospital,300 healthy volunteers were selected from the same period of physical examination center in our hospital and recorded as disease group and health group respectively.Genomic DNA of peripheral blood was extracted from peripheral blood of both groups.PTPN22 and TNF-αgene polymorphisms in peripheral blood cells were detected.Polymorphisms of PTPN221123 locus and TNF-α863 locus were compared between two groups.Logistic regression analysis was used to explore the relationship between them and autoimmune thrombocytopenia in Han population.Results:Distribution of CC,CG and GG genotypes at PTPN221123 locus in disease group were significantly higher than that in healthy group(P<0.05),and G allele frequency was significantly higher than that in the healthy group(P<0.05).Genotype distribution of CC,CA and AA at 863 locus of TNF-αin disease group was significantly higher than that in the healthy group(P<0.05),and frequency of A allele in disease group was significantly higher than that in healthy group(P<0.05).Logistic regression analysis showed that G mutation at PTPN221123,A mutation at TNF-α863,history of immunopotentiator application,virus infection and genetic history were risk factors for autoimmune thrombocytopenia in Han population(OR=6.903,7.965,5.966,6.994,6.443,P<0.05).Conclusion:Polymorphisms of PTPN22 and TNF-αgenes can affect the risk of autoimmune thrombocytopenia in Han population,G mutation at PTPN221123 site,A mutation at TNF-α863 site and history of immunopotentiator application are all risk factors.

关 键 词：非受体型蛋白酪氨酸磷酸酶22 肿瘤坏死因子-α 基因多态性 汉族人群 自身免疫性血小板减少症 

分 类 号：R558.2[医药卫生—血液循环系统疾病]