GDF5基因5′端一功能性SNP与骨性关节炎易感性相关

A single nucleid polymorphisms (SNP) in the 5′UTR of GDF5 is associated with knee osteoarthritis

目的评估江苏汉族人群中转化生长因子5(GDF5)非翻译区域的一个单核苷酸基因多态性(+104T/C;rs143383)与膝关节骨性关节炎相关性。方法对313例具有原发症状并有影像学证据的膝关节骨性关节炎患者及485名年龄相匹配的对照组进行+104T/C基因型测定,并检测+104T/C等位基因与膝关节骨性关节炎之间的关系。结果江苏汉族人群中,GDF5基因5′非翻译区域的一个单核苷酸基因多态性(+104T/C;rs143383)与膝关节骨性关节炎显著相关(P<0.01),含有+104C的等位基因转录能力下降。结论江苏汉族人群中GDF5基因5′非翻译区域+104T/C等位基因与膝关节骨性关节炎易感性呈显著相关。

Objective To evaluate whether a single nucleid polymorphisms（SNP） in the 5′UTR of GDF5（＋104T/C;rs143383） is associated with knee osteoarthritis（OA） in Jiangsu Han people.Methods The 5′UTR of GDF5（＋104T/C;rs143383） was genotyped in 313 patients with primary symptomatic knee OA with radiographic confirmation and in 485 age-matched controls,and the allelic association of SNP with knee OA was examined.Results The 5′UTR of GDF5（＋104T/C;rs143383） showed significant association（P〈0.01） with knee OA in Jiangsu Han people,with the susceptibility allele showing reduced activity.Conclusion SNP in the 5′UTR of GDF5（＋104T/C;rs143383） is associated with knee OA in Jiangsu Han people.