Department of Dermatology, Institute of Dermatology, No. 1 Hospital, Anhui Medical University, 69 Meishan Road, 230032, Hefei, Anhui, China.
Rheumatol Int. 2011 Feb;31(2):227-31. doi: 10.1007/s00296-009-1247-2. Epub 2009 Dec 13.
Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. Recently, single-nucleotide polymorphisms (SNPs) in tumor necrosis factor (TNF) superfamily gene TNFSF4 have been shown to be associated with SLE in European and Hong Kong Chinese populations. But it is unknown whether it is also associated with the disease in Mainland Chinese Han population. We genotyped the SNPs rs1234315 near the TNFSF4 gene in 1,344 SLE patients and 4,315 controls of Chinese Han population and confirmed the association between the SNP and the SLE [odds ratios (ORs) of 1.45 and P values of 1.5 × 10(-16)]. The stratification analyses showed that rs1234315 was more strongly associated with SLE patients with arthritis. Our study not only suggested that the TNFSF4 gene was associated with SLE in Chinese Han population, but also implied that it might be a common genetic factor predisposing to the development of SLE in multiple populations.
系统性红斑狼疮（SLE）是一种典型的自身免疫性疾病，具有复杂的遗传易感性。最近，肿瘤坏死因子（TNF）超家族基因 TNFSF4 中的单核苷酸多态性（SNP）已被证明与欧洲和香港汉族人群中的 SLE 相关。但尚不清楚它是否也与中国大陆汉族人群中的疾病有关。我们对 1344 例 SLE 患者和 4315 例汉族对照人群中 TNFSF4 基因附近的 SNP rs1234315 进行了基因分型，并证实了该 SNP 与 SLE 之间的关联[比值比（ORs）为 1.45，P 值为 1.5×10(-16)]。分层分析表明，rs1234315 与关节炎 SLE 患者的相关性更强。本研究不仅表明 TNFSF4 基因与汉族人群中的 SLE 相关，还暗示它可能是多个人群中导致 SLE 发展的共同遗传因素。
