中文摘要：

目的探讨TNFAIP3和TNIPl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SNaPShot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TNIPl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TNIPl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。

英文摘要：

Objective To investigate the association between polymorphisms of TNFAIP3, TNIP1 genes and clinical subphenotypes of systemic lupus erythematosus, and their potential roles in the pathogenesis of SLE. Methods In previous case-control study, SNaPShot genotyping was used to assess the differences in the frequencies of allele, genotype between 564 SLE patients and 504 health controls in Yunnan province. In the present stud- y, 11 clinical subphenotypes of SLE were stratified in 450 patients, and the frequencies of allele and genotype were also analyzed in different subphenotype groups. Results Stratified analysis showed rs5029924, rsJ029937 and rs2230926 in TNFAIP3 were significantly associated with most clinical subphenotypes inclu- ding malar rash, arthritis, serositis, neurologic disorders, hematologic disorders, immunologic disorders and an- ti-nuclear antibody （ P = 0. 001-0. 021 ）. For TNIP1, rs7708392 was associated with some clinical subpheno- types such as malar rash, renal disorders, immunologic disorders and anti-nuclear antibody （P = 0. 017 0. 043）. Conclusion Our study identifies the association of TNFAIP3 and TNIP1 with SLE susceptibility in HaM Chinese population. In particular, TNFAIP3 is likely the common genetic risk factors for SLE among dif- ferent populations, and contributes to most clinical subphenotypes, supporting the critical roles of type I in- terferon pathway in the pathogenesis of SLE.