Growth Differentiation Factor 5 (GDF5) Core Promoter Polymorphism Is Not Associated with Susceptibility to Osteoarthritis of the Knee in the Korean Population
Cao Zhang, 이화성, 송재휘, 윤정환, 박용규, 남석우, 이정용, 박원상,
소속 상세정보
( Cao Zhang )
가톨릭대학교 의과대학 병리학교실
이화성 ( Lee Hwa Sung )
가톨릭대학교 성모병원 정형외과학교실
송재휘 ( Song Jae-Hwi )
가톨릭대학교 의과대학 병리학교실
윤정환 ( Yoo Jeong-Whan )
가톨릭대학교 의과대학 병리학교실
박용규 ( Park Yong-Gyu )
가톨릭대학교 의과대학 의학통계학교실
남석우 ( Nam Suk-Woo )
가톨릭대학교 의과대학 병리학교실
이정용 ( Lee Jung-Young )
가톨릭대학교 의과대학 병리학교실
박원상 ( Park Won-Sang )
가톨릭대학교 의과대학 병리학교실
KMID : 0357920100440040404
Abstract
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.
키워드
Growth differentiation factor 5; Osteoarthritis; Polymorphism; Susceptibility; Korean population
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