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首页> 外文期刊>Journal of orthopaedic research >The growth differentiation factor 5 (GDF5) core promoter polymorphism is not associated with knee osteoarthritis in the Greek population.
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The growth differentiation factor 5 (GDF5) core promoter polymorphism is not associated with knee osteoarthritis in the Greek population.

机译：在希腊人口中，生长分化因子5（GDF5）核心启动子多态性与膝骨关节炎无关。

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摘要

Genetic factors have been shown to play an important role in the etiology of osteoarthritis (OA). A functional single nucleotide polymorphism (SNP) +104T/C; rs143383 in the 5' UTR of the GDF5 gene was recently associated with susceptibility to osteoarthritis in the Japanese and Chinese population. Our objective was to assess whether this SNP was also associated with knee OA in a Greek Caucasian population sample. The +104T/C SNP was genotyped in a total of 519 case-control cohort; 251 patients with idiopathic knee OA and 268 controls were used. No significant differences were found in genotype or allele frequencies of the +104T/C SNP of GDF5 gene between cases and controls (p < 0.05). Also, no significant differences in allelic and genotypic frequencies were found when the individuals were stratified by sex. Our data implied that the +104T/C; rs143383 GDF5 core promoter polymorphism is not a risk factor for OA etiology in Greek Caucasians. Our study highlights the heterogeneous nature of OA genetic susceptibility.
机译：遗传因素已显示在骨关节炎（OA）的病因中起重要作用。功能性单核苷酸多态性（SNP）+ 104T / C; GDF5基因5'UTR中的rs143383最近与日本人和中国人对骨关节炎的易感性有关。我们的目的是评估在希腊高加索人群样本中该SNP是否也与膝骨关节炎相关。在总共519个病例对照队列中对+ 104T / C SNP进行了基因分型。使用251例特发性膝OA患者和268例对照。病例与对照之间，GDF5基因的+ 104T / C SNP的基因型或等位基因频率无显着差异（p <0.05）。同样，当按性别对个体进行分层时，在等位基因和基因型频率上也没有发现显着差异。我们的数据暗示+ 104T / C; rs143383 GDF5核心启动子多态性不是希腊高加索人OA病因的危险因素。我们的研究强调了OA遗传易感性的异质性。

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