BACKGROUND Osteoarthritis (OA) is a common disease characterized by degenerating joint cartilage in the knee, hip, and hand. A functional single nucleotide polymorphism (SNP) +104T/C; rs143383 in the 5' untranslated region of the growth differentiation factor 5 (GDF5) gene was recently associated with susceptibility to OA in the Japanese and Chinese populations. METHODS To investigate whether this association is present in the Korean population, the frequency of the polymorphism was investigated in 276 patients with knee OA and 298 healthy subjects as controls. Polymorphism analysis was performed by amplifying the core promoter region of the GDF5 gene and digesting it with the BsiEI restriction enzyme. RESULTS The frequency of the TT, CT, and CC genotypes was 54.3% (150/276), 41.7% (115/276), and 4.0% (11/276), respectively, in patients with OA, and 53.4% (159/298), 37.9% (113/298), and 8.7% (26/298), respectively, in healthy controls. No significant differences in genotypic or allelic frequencies of the +104T/C SNP of the GDF5 gene were observed between patients with OA and controls. Also, no significant differences in allelic and genotypic frequencies were found when the individuals were stratified by age and gender. CONCLUSIONS The results suggest that the +104T/C; rs143383 GDF5 core promoter polymorphism is not a risk factor for OA in the Korean population.
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Correlation of growth differentiation factor-5 + 104T>C polymorphism with the risk of knee, hand, and hip osteoarthritis: a case-control study and meta-analysis based on 47 case-control studies Kamran Alijanpour, Seyed Alireza Dastgheib, Leila Azizi, Amirmasoud Shiri, Mohammad Bahrami, Maryam Aghasipour, Somaye Miri, Kazem Aghili, Zinatalsadat Dehghani-Manshadi, Hossein Neamatzadeh, Sahel Khajehnoori Nucleosides, Nucleotides & Nucleic Acids.2024; : 1. CrossRef
The association of growth differentiation factor 5 rs143383 gene polymorphism with osteoarthritis: a systematic review and meta-analysis Yue-peng Wang, Wen-jia Di, Su Yang, Shi-lei Qin, Yun-feng Xu, Peng-fei Han, Ke-dong Hou Journal of Orthopaedic Surgery and Research.2023;[Epub] CrossRef
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A comprehensive meta-analysis of association between genetic variants of GDF5 and osteoarthritis of the knee, hip and hand Rui Zhang, Jianfeng Yao, Peng Xu, Baohu Ji, James V. Luck, Brian Chin, Shemin Lu, John R. Kelsoe, Jie Ma Inflammation Research.2015; 64(6): 405. CrossRef
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