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Hwa Sung Lee 1 Article
Growth Differentiation Factor 5 (GDF5) Core Promoter Polymorphism Is Not Associated with Susceptibility to Osteoarthritis of the Knee in the Korean Population.
Zhang Cao, Hwa Sung Lee, Jae Hwi Song, Jeong Whan Yoon, Yong Kyu Park, Suk Woo Nam, Jung Young Lee, Won Sang Park
Korean J Pathol. 2010;44(4):404-409.
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AbstractAbstract PDF
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.
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.
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.
The results suggest that the +104T/C; rs143383 GDF5 core promoter polymorphism is not a risk factor for OA in the Korean population.


Citations to this article as recorded by  
  • Correlation between growth differentiation factor 5 (rs143383) gene polymorphism and knee osteoarthritis: an updated systematic review and meta-analysis
    Bin Jia, Yaping Jiang, Yingxing Xu, Yingzhen Wang, Tao Li
    Journal of Orthopaedic Surgery and Research.2021;[Epub]     CrossRef
  • Association between GDF5 rs143383 genetic polymorphism and musculoskeletal degenerative diseases susceptibility: a meta-analysis
    Xin Huang, Weiyue Zhang, Zengwu Shao
    BMC Medical Genetics.2018;[Epub]     CrossRef
  • Association of BMP-14 rs143383 ploymorphism with its susceptibility to osteoarthritis
    Yi Yin, Yan Wang
    Medicine.2017; 96(42): e7447.     CrossRef
  • Association between GDF5 +104T/C polymorphism and knee osteoarthritis in Caucasian and Asian populations: a meta-analysis based on case-control studies
    Dong Jiang, Zengtao Hao, Dongsheng Fan, Wen Guo, Pengcheng Xu, Chao Yin, Shuzheng Wen, Jihong Wang
    Journal of Orthopaedic Surgery and Research.2016;[Epub]     CrossRef
  • 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
  • Association between GDF5 rs143383 polymorphism and knee osteoarthritis: an updated meta-analysis based on 23,995 subjects
    Feng Pan, Jing Tian, Tania Winzenberg, Changhai Ding, Graeme Jones
    BMC Musculoskeletal Disorders.2014;[Epub]     CrossRef
  • Association between the +104T/C polymorphism in the 5′UTR of GDF5 and susceptibility to knee osteoarthritis: A meta-analysis
    Molecular Medicine Reports.2013; 7(2): 485.     CrossRef
  • A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population
    Tulyapruek Tawonsawatruk, Theeraroj Changthong, Sarinee Pingsuthiwong, Objoon Trachoo, Thanyachai Sura, Wiwat Wajanavisit
    Journal of Orthopaedic Surgery and Research.2011; 6(1): 47.     CrossRef

JPTM : Journal of Pathology and Translational Medicine