ETS1基因多态性与系统性红斑狼疮临床表型的相关性分析

Analysis of association between ETS1 gene polymorphisms and clinical phenotypes of systemic lupus erythematosus

目的:探讨ETS1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:对564例SLE患者和504例健康人对照进行ETS1基因SNPs分型,并将SLE组中临床资料完整的450例根据11种临床表型进行分层,针对以上SNPs分型与SLE各种临床表型进行相关性分析。结果:ETS1基因的rs6590330和rs4937333与SLE呈强相关,且均与SLE 8个临床表型(包括蝶形红斑、光敏感、关节炎、浆膜炎、肾脏损害、血细胞减少、免疫功能紊乱和抗核抗体)呈强相关。结论:ETS1基因是中国南方人群SLE发病的常见风险因子,并与SLE多种临床症状的发生有关。

Objective： To investigate the association between single nucleotide polymorphisms （SNPs） of ETS1 gene and clin- ical phenotypes of systemic lupus erythematosus （SLE）. Methods： SNPs of ETS1 gene were analyzed in 564 patients with SLE and 504 healthy controls. According to their 11 clinical phenotypes, 450 SLE patients with complete clinical data were further divided into subgroups. The correlation of SNPs and the clinical phenotypes of SLE was also analyzed. Results： Both rs6590330 and rs4937333 of ETS1 gene were strongly associated with SLE and 8 phenotypes （butterfly erythema, light sensitivity, arthritis, serositis, kidney damage, cytopenias, immune disorders and anti-nuclear antibodies）. Conclusion： ETSl gene is a common risk factor of SLE in the south China, and is associated with the development of multiple clinical symptoms in SLE.