中文摘要：

目的探讨信号传导和转录激活子4（STAT4）基因多态性与中国汉族人群系统性红斑狼疮（SLE）的相关性。方法运用焦磷酸测序的方法对SLE患者与健康对照组DNA中存在的3个单核苷酸多态性位点进行分型，并作统计学分析。结果STAT4基因的3个单核苷酸多态性（SNP）及其构成的单倍型在患者与健康对照组间差异均有统计学意义[rs11889341：P=0．01202，0R（95％CI）=1．22（1．044，1．424）；rs7574865;P=0．003454，OR（95％CI）=1．25（1．076～1．451）；rs8179673：P=0．004275，OR（95％CI）=1．274（1．079～1．505）]。结论STAT4基因上rs11889341、rs7574865和rs8179673与中国汉族人群SLE的发病有关联，且STAT4是一个多种族均存在的SLE相关基因。

英文摘要：

Objective To explore the association between the signal transducer and activator of transcription 4 （STAT4） gene polymorphism and Chinese Han systemic lupus erythematosus patients. Methods Pyrosequencing technique was used to genotype the 3 single nucleotide polymorphisms （SNP） in the samples of patients and normal individuals. Results Not only these 3 SNPs, but also the haplotypes composed by them showed significant difference between the SLE patients and normal individuals [rs11889341：P=0.012 02, OR （95%CI）=1.22（1.044-1.424）; rs7574865：P=0.003 454, 0R（95%CI）=1.25（ 1.076-1.451 ）; rs8179673： P= 0.004 275, OR （95%CI）=1.274 （1.079-1.505）1. Conclusion rs11889341, rs7574865 and rs8179673 of STAT4 are associated with the pathogenesis of Chinese Han SLE, and the STAT4 gene is a susceptibile gene for SLE in a few racial cohorts.