Ⅰ型干扰素通路IRF5基因多态性与系统性红斑狼疮的关联性研究  

Study on associations between type Ⅰ interferon pathway IRF5 gene polymorphisms and SLE

作　　者：李红梅[1] 刘水和[2] 叶震璇[1] 张华[1] 

机构地区：[1]贵州省人民医院检验科,贵阳550002 [2]贵州省人民医院中心实验室,贵阳550002

出　　处：《中国免疫学杂志》2017年第4期574-578,583,共6页Chinese Journal of Immunology

基　　金：贵州省科技厅国际合作项目(黔科合外G字[2012]7046号)

摘　　要：目的:研究Ⅰ型干扰素通路IRF5基因rs2004640、rs10954213、rs4728142位点的单核苷酸多态性与系统性红斑狼疮易感性之间的关联。方法:运用Taqman荧光定量PCR检测218例SLE患者及200例健康对照者IRF5基因rs10954213、rs4728142、rs2004640位点基因型,计算等位基因频率,分析其与SLE的关系;用IIF法和LIA法测定218例SLE患者血浆中抗核抗体、抗双链DNA抗体和特异性抗体,并分析其与IRF5 rs2004640、rs10954213位点基因频率的关系。结果:IRF5 rs2004640位点等位基因T频率分布SLE组高于对照组,差异有统计学意义(χ~2=6.809,P=0.009),基因型GG/TT分布在两组差异有统计学意义(χ~2=5.111,P=0.024,);IRF5 rs10954213位点等位基因G频率分布在SLE组高于对照组,差异有统计学意义(χ~2=4.332,P=0.037);基因型GG在两组的分布差异有统计学意义(χ~2=5.805,P=0.016);IRF5 rs4728142位点等位基因频率及基因型,两组比较差异无统计学意义。SLE组IRF5 rs2004640位点等位基因T和抗Sm抗体、抗Rib-P抗体相关(χ~2=8.512、4.057;P=0.005、0.048)。218例SLE患者中活动期患者特异性抗体主要以Anti-NUC、Anti-His、Anti-Rib-P为主,两组比较差异有统计学意义(P<0.05)。结论:IRF5基因rs2004640、rs10954213基因位点单核苷酸多态性与SLE易感性相关,rs4728142基因位点单核苷酸多态与SLE易感性不相关;IRF5 rs2004640 T等位基因和抗Sm抗体、Anti-Rib-P抗体相关,SLE活动期患者特异性抗体主要以抗ds-DNA抗体、抗NUC抗体、抗His抗体、抗Rib-P抗体为主。Objective：To investigate the 1RF5 rs2004640, rs10954213, rs4728142 loci gene polymorphisms in the progress of Systemic lupus erythematosus （SLE）, and explore the influence of the IRF5 gene polymorphisms to the SLE. Methods：218 patients with SLE and 200 health controls were analyzed by using TaqMan-PCR. And all allele frequencies were calculated. The risk factors were compared between cases and controls. At the same time, antinuelear antibodies and double-stranded DNA antibody of 218 SLE cases were analysed with indirect immunefluorescence method, specific autoantibodies in plasma spectrometry were determined using linear immunoassay in plasma. Results： T allele frequency of IRF5 rs2004640 loci in SLE was higher than the controls, allele frequency of the G/T distribution differences in two groups were statistically significant （X2 = 6. 809, P = 0. 009 ）. The GG/TI＂ genotype frequencies between the control and the SLE were statistically significant（x2 = 5.111,5.035 ;P= 0. 024,0. 025 ）. Compared control group with SLE group, G allele frequency of IRF5 rs10954213 loci in SLE group was higher than the controls, the difference was statistically significant （X2 = 4. 332, P = 0. 037 ）. And GG genotype distribution had significant difference in the two groups （X2 = 5. 805, P = 0. 016 ）. SLE group AA/AG/GG genotype distribution of IRF5 rs4728142 loci, compared with control group, there were no statistically difference （X2= 1. 273,0. 902,1. 853 ;P= 0. 259,0. 342,0. 173 ）. And allele frequency A/G also were not statistically differences in two groups （X2 = 2. 651 ,P=0. 104）. The T allele frequency of IRF5 rs2004640 and autoantibodies （anti-Sm, anti-Rib-P）significant associations were found with SLE patient. There were no statistically significant difference between IRF5 rs10954213 with autoantibodies. Compared with SLE remission patients, ANA, ds-DNA increased obviously. Anti-NUC, anti-His, anti-Rib-P were higher, there were statistically significant differences betwen two groups. Conc

关 键 词：SLE Ⅰ型干扰素通路 干扰素调节因子 基因多态性 抗核抗体 

分 类 号：R593.241[医药卫生—内科学]