中国免疫学杂志2026，Vol.42Issue(6)：1419-1426,8.DOI:10.3969/j.issn.1000-484X.2026.06.022
免疫调节相关基因多态性与重症肌无力的易感性研究
Investigation of susceptibility of myasthenia gravis to polymorphisms in immune regulation-related genes
摘要
Abstract
Objective:To investigate correlation between susceptibility to myasthenia gravis(MG)and polymorphisms of im-mune regulation-related genes:Protein tyrosine phosphatase non-receptor 22(PTPN22),tumor necrosis factor alpha-induced protein 3(TNFAIP3),TNFAIP3-interacting protein 1(TNIP1),interferon regulatory factor 5(IRF5),T cell immunoglobulin domain and mu-cin domain-3(Tim-3),programmed cell death protein 1(PDCD1).Methods:Improved multiple ligase detection reaction technique(iMLDR)was utilized to identify SNP genotypes in 149 MG patients who were recruited in the Second Affiliated Hospital of Harbin Medical University from September 2019 to June 2022,and in 148 healthy blood donors,including PTPN22(rs2488457 C/G,rs33996649 C/T),TNFAIP3 rs2230926 G/T,TNIP1 rs3792783 G/A,IRF5 rs10954213 G/A,Tim-3 rs10515746 C/A,and PDCD1 rs11568821 C/T.Results:Frequency of C alleles at PTPN22 rs2488457 in MG group(38.6%)was significantly higher than healthy controls(29.7%)(χ2=5.183,P=0.023).Genetic frequency of C alleles(38.3%)in female MG group was higher than control group(27.6%)(χ2=4.008,P=0.045).Within early-onset MG group(≤50 years old),frequency of C alleles(43.7%)was higher than that in control group(30.9%)(χ2=5.378,P=0.020).There was a higher frequency of C alleles in ocular MG patients(47.3%)compared to generalized MG(33.3%),conversely,there was a higher frequency of G allele in generalized MG patients(66.7%)than in ocular MG patients(52.7%)(χ2=5.772,P=0.016).G alleles frequency for TNFAIP3 rs2230926 within MG group(7.0%)was also higher than healthy controls(3.4%)(χ2=4.040,P=0.044).Frequencies of GG and AA genotypes at TNIP1 rs3792783 locus were 14.8%and 59.0%in MG group,which were higher than those in control group(14.2%,46.6%)(χ²=6.041,P=0.049).However,no association observed in genotype frequencies and allele frequencies at remaining loci between MG and control groups(P>0.05).Conclusion:Associations have been observed between MG with PTPN22 rs2488457,TNFAIP3 rs2230926 and TNIP1rs3792783 SNPs,but not with PTPN22 rs33996649,IRF5 rs10954213,Tim-3 rs10515746 and PDCD1 rs11568821 SNPs.关键词
重症肌无力/自身免疫病/遗传变异/单核苷酸多态性/iMLDRKey words
Myasthenia gravis/Autoimmune diseases/Genetic variation/SNP/iMLDR分类
医药卫生引用本文复制引用
邓慧,张小波,演员..免疫调节相关基因多态性与重症肌无力的易感性研究[J].中国免疫学杂志,2026,42(6):1419-1426,8.基金项目
内蒙古医科大学附属医院博士启动金(MYFY BS 202132) （MYFY BS 202132）
内蒙古自治区自然科学基金项目(2020MS08194). （2020MS08194）
