Jiang Yan, Cheng Ling, Li Xin, Zhou Wenke, Zhang Li
The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, China.
Department of Ophthalmology, Yongchuan Hospital, Chongqing Medical University, Chongqing, China.
Oncotarget. 2017 Oct 23;8(62):105037-105046. doi: 10.18632/oncotarget.22064. eCollection 2017 Dec 1.
The present study was designed to explore the interrelationship between single nucleotide polymorphisms (SNP) of the tumor necrosis factor superfamily (TNFSF) and its respective receptor superfamily (TNFRSF) genes and Behcet's disease (BD) and Vogt-Koyanagi-Harada syndrome (VKH) in Han Chinese. The study sample included 796 patients with BD, 792 patients with VKH syndrome, and 1604 healthy controls. The genotyping of 35 SNPs was performed by MassARRAY platform (Sequenom), iPLEX Gold Assay, PCR-restriction fragment length polymorphism assay and TaqMan SNP assay. The mRNA expression levels of and were analyzed by real-time PCR. The IL-6 and TNF-α expression levels were measured by ELISA. The A allele and AA genotype frequencies of /rs1234313 were significantly increased, and the GG genotype frequency of rs1234313 was decreased in subjects with BD. Significantly lower frequencies of the C allele and the CC genotype and higher frequencies of the TT and CT genotypes of /rs4246905 were observed in BD patients. A decreased frequency of the A allele of /rs7028891 was observed in BD patients. The expression of in CT carriers was significantly higher than that in CC/TT individuals. Increased IL-6 expression and TNF-α production were found in the CT carriers compared with the CC/TT genotype carriers. No significant differences were observed between the VKH patients and controls. This study indicates that and may participate in the susceptibility to BD among Han Chinese.
本研究旨在探讨汉族人群中肿瘤坏死因子超家族（TNFSF）及其相应受体超家族（TNFRSF）基因的单核苷酸多态性（SNP）与白塞病（BD）和Vogt-小柳原田综合征（VKH）之间的相互关系。研究样本包括796例BD患者、792例VKH综合征患者和1604例健康对照。采用MassARRAY平台（Sequenom）、iPLEX Gold检测法、PCR-限制性片段长度多态性检测法和TaqMan SNP检测法对35个SNP进行基因分型。通过实时PCR分析 和 的mRNA表达水平。采用ELISA法检测IL-6和TNF-α的表达水平。在BD患者中， /rs1234313的A等位基因和AA基因型频率显著增加，rs1234313的GG基因型频率降低。在BD患者中观察到 /rs4246905的C等位基因和CC基因型频率显著降低，TT和CT基因型频率升高。在BD患者中观察到 /rs7028891的A等位基因频率降低。CT携带者中 的表达显著高于CC/TT个体。与CC/TT基因型携带者相比，CT携带者中IL-6表达增加，TNF-α产生增多。VKH患者与对照组之间未观察到显著差异。本研究表明， 和 可能参与汉族人群对BD的易感性。
