Hou Shengping, Yang Peizeng, Du Liping, Zhou Hongyan, Lin Xiaomin, Liu Xiaoli, Kijlstra Aize
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, PR China.
Clin Immunol. 2008 Oct;129(1):170-5. doi: 10.1016/j.clim.2008.06.006. Epub 2008 Jul 26.
Small ubiquitin-like modifier 4 (SUMO4) has been shown to have the potential to down-regulate NF-kappaB signal, leading to decreased transcription of pro-inflammatory cytokines. Recently, SUMO4 polymorphisms have been shown to be associated with several autoimmune diseases. In the present study, the association of SUMO4 polymorphisms with Behcet's disease (BD) was investigated. Our results showed a significantly increased frequency of the + 438 C allele and a significantly decreased frequency of the AGAT haplotype in BD patients (p=0.0002, corrected p=0.002; p=0.000015, corrected p=0.0002, respectively). Stratification analysis indicated that these significant associations only existed in the HLA-B51 negative subjects (p=0.004, corrected p=0.032; p=0.001, corrected p=0.016, respectively). The GGAC haplotype was negatively associated with HLA-B51 positive BD patients (p=0.0007, corrected p=0.011). In conclusion, SUMO4 +438 C allele is associated with susceptibility to BD in HLA-B51 negative patients, while the AGAT haplotype is protectively associated with BD in HLA-B51 negative patients. The GGAC haplotype is protectively associated with BD in HLA-B51 positive patients.
小泛素样修饰物4(SUMO4)已被证明有下调核因子κB信号的潜力,从而导致促炎细胞因子转录减少。最近,SUMO4基因多态性已被证明与几种自身免疫性疾病有关。在本研究中,我们调查了SUMO4基因多态性与白塞病(BD)的相关性。我们的结果显示,BD患者中 +438 C等位基因频率显著增加,AGAT单倍型频率显著降低(p = 0.0002,校正p = 0.002;p = 0.000015,校正p = 0.0002)。分层分析表明,这些显著相关性仅存在于HLA - B51阴性受试者中(分别为p = 0.004,校正p = 0.032;p = 0.001,校正p = 0.016)。GGAC单倍型与HLA - B51阳性BD患者呈负相关(p = 0.0007,校正p = 0.011)。总之,SUMO4 +438 C等位基因与HLA - B51阴性患者患BD的易感性相关,而AGAT单倍型与HLA - B51阴性患者的BD呈保护性相关。GGAC单倍型与HLA - B51阳性患者的BD呈保护性相关。