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目的探讨TNFAIP3和TNIP1基因的单核苷酸多态性(SNPs)与系统性红斑狼疮(SLE)各种临床表型的相关性。方法先前的病例对照研究中,笔者曾采用SNa PShot法对564名云南省汉族SLE患者和504名同地区同民族健康对照进行了TNFAIP3和TNIP1基因共8个标志SNPs的分型,比较两组的各个等位基因和基因型频率;本研究对其中450例资料完整的SLE患者根据11种临床表型进行分层,并与以上SNPs多态性结果进行相关性分析。结果 TNFAIP3基因多态性与多个临床表型如蝶形红斑、关节炎、浆膜炎、神经系统损害、血液系统损害、免疫学紊乱、抗核抗体呈显著相关(P=0.001~0.021);而TNIP1基因多态性与蝶形红斑、肾损害、免疫学紊乱、抗核抗体呈弱相关(P=0.017~0.043)。结论结合同期研究结果确定TNFAIP3和TNIP1基因是中国汉族人群SLE的易感基因,尤其TNFAIP3可能是不同人群SLE发病的共同风险因子,并对SLE多种临床症状的发生有所贡献,提示Ⅰ型干扰素信号通路在SLE发病机制中起着至关重要的作用。
Objective To investigate the association between single nucleotide polymorphisms (TNPs) of TNFAIP3 and TNIP1 genes and various clinical phenotypes of systemic lupus erythematosus (SLE). Methods In the previous case-control study, SNP PShot method was used to genotype 8 SNPs of TNFAIP3 and TNIP1 genes in 564 SLE patients in Han nationality in Yunnan province and 504 ethnic healthy controls in the same area. SNPs were compared between the two groups In this study, 450 cases of SLE patients with complete data were stratified according to 11 clinical phenotypes, and the correlation analysis was carried out with the SNPs among the above SNPs. Results The polymorphism of TNFAIP3 gene was significantly associated with multiple clinical phenotypes such as butterfly erythema, arthritis, serositis, nervous system damage, blood system damage, immunological disorders and antinuclear antibodies (P = 0.001 ~ 0.021). The TNIP1 gene polymorphism and butterfly erythema, renal damage, immunological disorders, antinuclear antibodies showed a weak correlation (P = 0.017 ~ 0.043). Conclusions Combined with the results of the same period, TNFAIP3 and TNIP1 genes were identified as SLE susceptibility genes in Chinese Han population. In particular, TNFAIP3 may be a common risk factor for SLE in different populations and contribute to the development of various SLE clinical symptoms, suggesting that type I interference Signaling pathways play a crucial role in the pathogenesis of SLE.