Eye Hospital, the First Affiliated Hospital of Harbin Medical University, Harbin, China.
Department of Endocrinology, the First Affiliated Hospital of Harbin Medical University, Harbin, China.
Sci Rep. 2017 Apr 13;7(1):879. doi: 10.1038/s41598-017-00833-1.
Uveitis is a devastating ocular disease that causes blindness. Our previous studies have achieved great advancements in depicting the genetic profiles of uveitis regarding complement pathway genes. This study aimed to provide additional insights into this interest by testing the "central" factor of the complement system, C3 gene variants, in two uveitis entities. Eight haplotype-tagging SNPs of C3 gene were genotyped in 141 anterior uveitis (AU), 158 non-infectious intermediate and posterior uveitis (NIPU) and 293 controls. The results showed that none of the tagging SNPs had a significant association with uveitis (P > 0.05), either in the global uveitis or subtypes. Although rs428453 showed a nominal association with NIPU subtype in the recessive model (P = 0.042), the P value could not withstand the Bonferroni correction (P > 0.05). Stratification analyses according to HLA-B27 status and correlation analysis still did not find any significant interactions or genetic markers regarding AU. Logistic regression analysis also revealed no gender-related epistatic effects of C3 on uveitis. Two haplotype blocks were defined across the C3 locus but neither of them was significantly associated with uveitis or subtypes. This study shows no significant association of the C3 gene with uveitis, suggesting C3 confers either no or limited risk for uveitis susceptibility.
葡萄膜炎是一种致盲性眼病。我们之前的研究已经在描述葡萄膜炎补体途径基因的遗传特征方面取得了重大进展。本研究旨在通过检测补体系统“中心”因子 C3 基因变异，在两种葡萄膜炎实体中进一步深入研究这一问题。对 141 例前葡萄膜炎（AU）、158 例非传染性中间和后葡萄膜炎（NIPU）和 293 例对照者的 C3 基因 8 个单倍型标签 SNP 进行了基因分型。结果显示，没有一个标签 SNP 与葡萄膜炎（P>0.05）具有显著相关性，无论是在整体葡萄膜炎还是在亚组中。虽然 rs428453 在隐性模型中与 NIPU 亚型呈名义关联（P=0.042），但该 P 值无法承受 Bonferroni 校正（P>0.05）。根据 HLA-B27 状态进行分层分析和相关性分析，AU 也未发现任何显著的相互作用或遗传标记。逻辑回归分析也没有发现 C3 对葡萄膜炎的性别相关上位效应。在 C3 基因座上定义了两个单倍型块，但它们都与葡萄膜炎或亚型无显著相关性。本研究表明 C3 基因与葡萄膜炎无显著相关性，提示 C3 对葡萄膜炎易感性的影响要么没有，要么有限。
