Department of Orthopedics, the First Hospital of Tianshui City, Tianshui, Gansu Province, China; Department of Sports Medicine, the First Hospital of Tianshui City, Tianshui, Gansu Province, China.
Department of Orthopedics, the First Hospital of Tianshui City, Tianshui, Gansu Province, China.
Arch Med Res. 2020 Jan;51(1):76-81. doi: 10.1016/j.arcmed.2019.12.007. Epub 2020 Feb 25.
Osteoarthritis (OA) is the most common type of arthritis disease. Previous etiological studies indicated that both environmental and genetic factors play important roles in the occurrence and development of knee OA (KOA). In the present study, we aimed to investigate the association between the FGF18 gene and susceptibility to KOA in Han Chinese population.
A total of 2,556 unrelated Han Chinese individuals, including 866 KOA patients and 1,688 healthy controls, were recruited. Nine tag SNPs located within the gene region of FGF18 were selected for genotyping. Logistic models were fitted for single marker-based association analyses. Age, gender and BMI were included in each model as covariates. To investigate the functional consequences of significant SNP, we extracted expression quantitative trait loci (eQTL) data from the GTEx database.
SNP rs3884606 was significantly associated with the risk of KOA (OR [95% CI] = 1.25 [1.11-1.41], p = 0.0002) after adjusting for age, gender and BMI. The G allele was significantly associated with an increased risk of KOA. No significant eQTL signals could be identified for SNP rs3884606 on FGF18.
In this study, we identified a genetic polymorphism in FGF18 that was significantly associated with the risk of KOA based on samples with Chinese Han ancestry. Our findings replicated the recent GWAS report and supported an association between KOA and FGF18.
骨关节炎（OA）是最常见的关节炎疾病类型。先前的病因学研究表明，环境和遗传因素在膝骨关节炎（KOA）的发生和发展中都起着重要作用。在本研究中，我们旨在探讨 FGF18 基因与汉族人群 KOA 易感性之间的关系。
共纳入 2556 名无血缘关系的汉族个体，包括 866 例 KOA 患者和 1688 例健康对照者。选择 FGF18 基因区域内的 9 个标签 SNP 进行基因分型。采用逻辑回归模型进行基于单标记的关联分析。在每个模型中均将年龄、性别和 BMI 作为协变量进行校正。为了研究有意义 SNP 的功能后果，我们从 GTEx 数据库中提取表达数量性状基因座（eQTL）数据。
经年龄、性别和 BMI 校正后，SNP rs3884606 与 KOA 的发病风险显著相关（OR[95%CI]为 1.25[1.11-1.41]，p=0.0002）。G 等位基因与 KOA 的发病风险增加显著相关。在 FGF18 上未发现 SNP rs3884606 的显著 eQTL 信号。
在这项基于中国汉族人群样本的研究中，我们发现 FGF18 中的遗传多态性与 KOA 的发病风险显著相关。我们的研究结果与最近的 GWAS 报道一致，支持 KOA 与 FGF18 之间存在关联。
