Renal Division, Department of Medicine, Peking University First Hospital, Institute of Nephrology, Peking University, Beijing, China.
Nephrology (Carlton). 2010 Oct;15(7):710-3. doi: 10.1111/j.1440-1797.2010.01327.x.
Recently, several studies have provided convincing evidence that polymorphisms in the interferon regulatory factor 5 (IRF5) gene were significantly associated with systemic lupus erythematosus (SLE) in several populations. The aim of this study was to investigate the association between IRF5 and lupus nephritis in a Chinese cohort and analyze the relationship between the rs2004640 genotype and the clinical and pathological phenotypes of lupus nephritis.
The IRF5 rs2004640 polymorphism in a cohort of 190 Chinese lupus nephritis patients and 182 healthy Chinese blood donors was analyzed. The polymorphism examined was genotyped using the TaqMan assay. RESULTS The IRF5 rs2004640 T allele was associated with the susceptibility to lupus nephritis (rs2004640 T, 41.6% in patients, 30.8% in healthy controls, odds ratio=1.6, P=0.002). It was also found that the Chinese population had a much lower minor allele frequency of rs2004640 than Western populations studied to date. In the present cohort, 30.8% individuals in the control group had the detrimental T allele, compared to frequencies in the range of 44-56% that exist in Western populations. No association was found between IRF5 rs2004640 and pathology, or clinical presentation of lupus nephritis in the Chinese cohort examined.
The results suggested that the rs2004640 T allele was associated with susceptibility to lupus nephritis and that the IRF5 polymorphism analyzed did not seem to be implicated in the pathology and clinical manifestation of lupus nephritis in the Chinese population.
最近，几项研究提供了令人信服的证据，表明干扰素调节因子 5（IRF5）基因中的多态性与几种人群中的系统性红斑狼疮（SLE）显著相关。本研究旨在探讨中国人群中 IRF5 与狼疮肾炎的相关性，并分析 rs2004640 基因型与狼疮肾炎临床和病理表型的关系。
分析了 190 例中国狼疮肾炎患者和 182 名健康中国献血者队列中的 IRF5 rs2004640 多态性。使用 TaqMan 检测法对多态性进行基因分型。
IRF5 rs2004640T 等位基因与狼疮肾炎易感性相关（rs2004640T，患者中为 41.6%，健康对照中为 30.8%，优势比=1.6，P=0.002）。还发现，与迄今为止研究的西方人群相比，中国人群的 rs2004640 小等位基因频率要低得多。在本队列中，对照组中有 30.8%的个体携带有害的 T 等位基因，而西方人群中存在的频率范围为 44-56%。在本研究中未发现 IRF5 rs2004640 与狼疮肾炎的病理学或临床表现之间存在关联。
结果表明，rs2004640T 等位基因与狼疮肾炎易感性相关，分析的 IRF5 多态性似乎与中国人群狼疮肾炎的病理学和临床表现无关。
