Shan Jiankang, Li Lin, Du Liping, Yang Peizeng
The Academy of Medical Sciences, Zhengzhou University, Zhengzhou, People's Republic of China; Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Henan Province Eye Hospital, Henan International Joint Research Laboratory for Ocular Immunology and Retinal Injury Repair, Zhengzhou, People's Republic of China.
Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Henan Province Eye Hospital, Henan International Joint Research Laboratory for Ocular Immunology and Retinal Injury Repair, Zhengzhou, People's Republic of China.
Exp Eye Res. 2023 Apr;229:109417. doi: 10.1016/j.exer.2023.109417. Epub 2023 Feb 14.
Copy number variations (CNVs) in TBX21 gene have been reported to be significantly and positively correlated with acute anterior uveitis (AAU). Our study was performed to further determine whether single nucleotide polymorphisms (SNPs) in TBX21 gene confer susceptibility to AAU in a Chinese population. In our case-control study, 420 AAU patients and 918 healthy controls were included. SNP genotyping was conducted via the MassARRAY™ iPLEX Gold platform. Association and haplotype analyses were performed via SPSS 23.0 and SHEsis software. No significant association was observed between two candidate SNPs of TBX21 gene (rs4794067, rs11657479) and susceptibility to AAU (Pc > 0.05). In stratification analysis, the result also showed no significant difference between the HLA-B27 positive AAU patients and non-typed healthy controls. Additionally, no association was detected between TBX21 haplotypes and AAU risk. In conclusion, the polymorphisms rs4794067 and rs11657479 in TBX21 gene did not confer disease susceptibility to AAU in a Chinese population.
据报道，TBX21基因的拷贝数变异（CNV）与急性前葡萄膜炎（AAU）显著正相关。我们开展这项研究是为了进一步确定TBX21基因中的单核苷酸多态性（SNP）是否会使中国人群易患AAU。在我们的病例对照研究中，纳入了420例AAU患者和918名健康对照。通过MassARRAY™ iPLEX Gold平台进行SNP基因分型。通过SPSS 23.0和SHEsis软件进行关联分析和单倍型分析。未观察到TBX21基因的两个候选SNP（rs4794067、rs11657479）与AAU易感性之间存在显著关联（Pc>0.05）。在分层分析中，结果还显示HLA - B27阳性的AAU患者与未分型的健康对照之间无显著差异。此外，未检测到TBX21单倍型与AAU风险之间存在关联。总之，TBX21基因中的多态性rs4794067和rs11657479不会使中国人群易患AAU。
