Zhang Jie, Chen Yuewen, Shao Yong, Wu Qi, Guan Ming, Zhang Wei, Wan Jun, Yu Bo
Shenzhen Key Lab for Translational Medicine of Dermatology, Shenzhen PKU-HKUST Medical Center, No. 1120 Lian-Hua Road, Futian District, Shenzhen, Guangdong 518036, China.
Autoimmune Dis. 2012;2012:265823. doi: 10.1155/2012/265823. Epub 2012 Jul 19.
Background. TNFα-induced protein 3 (TNFAIP3) interacting with protein 1 (TNIP1) acts as a negative regulator of NF-κB and plays an important role in maintaining the homeostasis of immune system. A recent genome-wide association study (GWAS) showed that the polymorphism of TNIP1 was associated with the disease risk of SLE in Caucasian. In this study, we investigated whether the association of TNIP1 with SLE was replicated in Chinese population. Methods. The association of TNIP1 SNP rs7708392 (G/C) was determined by high resolution melting (HRM) analysis with unlabeled probe in 285 SLE patients and 336 healthy controls. Results. A new SNP rs79937737 located on 5 bp upstream of rs7708392 was discovered during the HRM analysis. No association of rs7708392 or rs79937737 with the disease risk of SLE was found. Furthermore, rs7708392 and rs79937737 were in weak linkage disequilibrium (LD). Hypotypes analysis of the two SNPs also showed no association with SLE in Chinese population. Conclusions. High resolution melting analysis with unlabeled probes proves to be a powerful and efficient genotyping method for identifying and screening SNPs. No association of rs7708392 or rs79937737 with the disease risk of SLE was observed in Chinese population.
背景。与蛋白1(TNIP1)相互作用的肿瘤坏死因子α诱导蛋白3(TNFAIP3)作为核因子κB的负调节因子,在维持免疫系统稳态中发挥重要作用。最近一项全基因组关联研究(GWAS)表明,TNIP1的多态性与白种人中系统性红斑狼疮(SLE)的疾病风险相关。在本研究中,我们调查了TNIP1与SLE的关联在中国人群中是否也存在。方法。采用高分辨率熔解曲线(HRM)分析结合未标记探针,对285例SLE患者和336例健康对照者检测TNIP1单核苷酸多态性(SNP)rs7708392(G/C)。结果。在HRM分析过程中,发现了一个位于rs7708392上游5bp处的新SNP rs79937737。未发现rs7708392或rs79937737与SLE疾病风险有关联。此外,rs7708392和rs79937737处于弱连锁不平衡(LD)状态。对这两个SNP的单倍型分析也显示在中国人群中与SLE无关联。结论。未标记探针的高分辨率熔解分析被证明是一种用于鉴定和筛选SNP的强大而有效的基因分型方法。在中国人群中未观察到rs7708392或rs79937737与SLE疾病风险有关联。