Growth Differentiation Factor 5 (GDF5) Core Promoter Polymorphism Is Not Associated with Susceptibility to Osteoarthritis of the Knee in the Korean Population
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Background : Osteoarthritis (OA) is a common disease characterized by degenerating joint cartilage in the knee, hip, and hand. A functional single nucleotide polymorphism (SNP) +104-T/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.
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) +104-T/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.
참고문헌 (30)
- Oliveria SA, "Incidence of symptomatic hand,hip,and knee osteoarthritis among patients in a health maintenance organization", Arthritis Rheum, 38, pp.1134~1141 (1995)
- Peach CA, "Recent advances in the genetic investigation of osteoarthritis", Trends Mol Med, 11, pp.186~191 (2005)
- Malemud CJ, "Pathophysiological mechanisms in osteoarthritis lead to novel therapeutic strategies", Cells Tissues Organs, 174, pp.34~48 (2003)
- Zhang W, "How important are genetic factors in osteoarthritis? Contributions from family studies", J Rheumatol, 32, pp.1139~1142 (2005)
- Spector TD, "Risk factors for osteoarthritis: genetics", Osteoarthritis Cartilage, 12(Suppl A), pp.S39~S44 (2004)
- Miyamoto Y, "A functional polymorphism in the 5′UTR of GDF5 is associated with susceptibility to osteoarthritis", Nat Genet, 39, pp.529~533 (2007)
- Nishitoh H, "Identification of type I and type II serine", threonine kinase receptors for growth, J Biol Chem, pp.1996, 271[DOI]
- Mikic B, "The effect of growth", differentiation factor-5 deficiency on femoral composition and mechanical behavior in mice, 2002, pp.30, 733~737
- Nickel J, "A single residue of GDF-5 defines binding specificity to BMP receptor IB", J Mol Biol, 349, pp.933~947 (2005)
- Tsumaki N, "Role of CDMP-1 in skeletal morphogenesis:promotion of mesenchymal cell recruitment and chondrocyte differentiation", J Cell Biol, 144, pp.161~173 (1999)
- Bobacz K, "Cartilage-derived morphogenetic protein-1 and-2 are endogenously expressed in healthy and osteoarthritic human articular chondrocytes and stimulate matrix synthesis", Osteoarthritis Cartilage, 10, pp.394~401 (2002)
- Southam L, "An SNP in the 5′-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage", Hum Mol Genet, 16, pp.2226~2232 (2007)
- Tsezou A, "The growth differentiation factor 5(GDF5)core promoter polymorphism is not associated with knee osteoarthritis in the Greek population", J Orthop Res, 26, pp.136~140 (2008)
- Chapman K, "A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5′UTR of GDF5 with osteoarthritis susceptibility", Hum Mol Genet, 17, pp.1497~1504 (2008)
- Evangelou E, "Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip,knee,and hand", Arthritis Rheum, 60, pp.1710~1721 (2009)
- Ikeda T, "Identification of sequence polymorphisms in two sulfation-related genes,PAPSS2 and SLC26A2,and an association analysis with knee osteoarthritis", J Hum Genet, 46, pp.538~543 (2001)
- Lee JY, "A simple,precise and economical microdissection technique for analysis of genomic DNA from archival tissue sections", Virchows Arch, 433, pp.305~309 (1998)
- Ikegawa S, "New gene associations in osteoarthritis:what do they provide,and where are we going?", Curr Opin Rheumatol, 19, pp.429~434 (2007)
- Abel K, "Genome-wide SNP association:identification of susceptibility alleles for osteoarthritis", Autoimmun Rev, 5, pp.258~263 (2006)
- Loughlin J, "The genetic epidemiology of human primary osteoarthritis:current status", Expert Rev Mol Med, 7, pp.1~12 (2005)
- Kizawa H, "An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis", Nat Genet, 37, pp.138~144 (2005)
- Song JH, "Aspartic acid repeat polymorphism of the asporin gene with susceptibility to osteoarthritis of the knee in a Korean population", Knee, 15, pp.191~195 (2008)
- Luyten FP, "Cartilage-derived morphogenetic protein-1", Int J Biochem Cell Biol, 29, pp.1241~1244 (1997)
- Francis-West PH, "Mechanisms of GDF-5 action during skeletal development", Development, 126, pp.1305~15 (1999)
- Edwards CJ, "Bone morphogenetic proteins in the development and healing of synovial joints", Semin Arthritis Rheum, 31, pp.33~42 (2001)
- Mikic B, "Multiple effects of GDF-5 deficiency on skeletal tissues:im plications for therapeutic bioengineering", Ann Biomed Eng, 32, pp.466~476 (2004)
- Nickel J, "A single residue of GDF-5 defines binding specificity to BMP receptor IB", J Mol Biol, 349, pp.933~947 (2005)
- Egli RJ, "Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism", Arthritis Rheum, 60, pp.2055~2064 (2009)
- Nakamura T, "Meta-analysis of association between the ASPN D-repeat and osteoarthritis", Hum Mol Genet, 16, pp.1676~1681 (2007)
- Jiang Q, "Lack of association of single nucleotide polymorphism in LRCH1 with knee osteoarthritis susceptibility", J Hum Genet, 53, pp.42~47 (2008)
