The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, People's Republic of China.
University Eye Clinic Maastricht, Maastricht, the Netherlands.
Exp Eye Res. 2020 Jul;196:108045. doi: 10.1016/j.exer.2020.108045. Epub 2020 May 8.
The purpose of this study was to investigate whether single nucleotide polymorphisms (SNPs) of the tumor necrosis factor receptor superfamily (TNFRSF) and their ligand (TNFSF) gene are associated with susceptibility to Behcet's Disease (BD) in Chinese Han. A two-phase case-control study was performed in 1055 BD patients and 1829 healthy controls. A total of 27 SNPs was tested using MassARRAY iPLEX® technology. Data were analyzed using a Chi-square (χ2) test and Fisher's exact calibration test. The Bonferroni correction was applied for multiple testing. A statistically significant higher frequency of the A allele and a lower frequency of the G allele of rs1800692 was found in BD (Pc = 0.013, OR = 1.233, 95% CI = 1.103-1.379: Pc = 0.013, OR = 0.811, 95% CI = 0.725-0.907, respectively). Our findings indicate that TNFRSF1A might confer genetic susceptibility to BD in a Chinese Han population.
本研究旨在探讨肿瘤坏死因子受体超家族（TNFRSF）及其配体（TNFSF）基因的单核苷酸多态性（SNPs）是否与中国人易患贝赫切特病（BD）有关。采用病例对照两阶段研究，共纳入 1055 例 BD 患者和 1829 例健康对照。采用 MassARRAY iPLEX®技术检测 27 个 SNP。采用卡方检验（χ2）和 Fisher 精确检验进行数据分析。对多重检验进行了 Bonferroni 校正。在 BD 患者中发现 rs1800692 的 A 等位基因频率较高，G 等位基因频率较低（Pc=0.013，OR=1.233，95%CI=1.103-1.379：Pc=0.013，OR=0.811，95%CI=0.725-0.907）。我们的研究结果表明，TNFRSF1A 可能在中国汉族人群中赋予 BD 的遗传易感性。
