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Volumn 48, Issue 4, 2009, Pages 371-374

A large kindred of early-onset osteoarthritis of the knee and hip: Excluding the link to COL2A1 gene

Author keywords

COL2A1 gene; Early onset OA; Genome wide linkage; Phenotype; Short tandem repeat polymorphic markers

Indexed keywords

PROCOLLAGEN; PROCOLLAGEN TYPE 2 AMINOPROPEPTIDE; UNCLASSIFIED DRUG;

EID: 63249111461     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kep010     Document Type: Article
Times cited : (5)

References (20)
  • 1
    • 0033775218 scopus 로고    scopus 로고
    • Osteoarthritis: New insights. Part 1: The disease and its risk factors
    • Felson DT, Lawrence RC, Dieppe PA et al. Osteoarthritis: New insights. Part 1: The disease and its risk factors. Ann Intern Med 2000;133:635-46.
    • (2000) Ann Intern Med , vol.133 , pp. 635-646
    • Felson, D.T.1    Lawrence, R.C.2    Dieppe, P.A.3
  • 2
    • 0033569188 scopus 로고    scopus 로고
    • An introduction to the pathophysiology of osteoarthritis
    • Poole AR. An introduction to the pathophysiology of osteoarthritis. Front Biosci 1999;4:662-70.
    • (1999) Front Biosci , vol.4 , pp. 662-670
    • Poole, A.R.1
  • 3
    • 63249094501 scopus 로고    scopus 로고
    • Stecher RM. Heberden's nodes: Heredity in hypertrophic arthritis of the finger joints. Am J Med Sci 1941;210:801-9.
    • Stecher RM. Heberden's nodes: Heredity in hypertrophic arthritis of the finger joints. Am J Med Sci 1941;210:801-9.
  • 4
    • 0031748678 scopus 로고    scopus 로고
    • Evidence for a Mendelian gene in a segregation analysis of generalized radiographic osteoarthritis: The Framingham study
    • Felson DT, Couropmitree NN, Chaisson CE et al. Evidence for a Mendelian gene in a segregation analysis of generalized radiographic osteoarthritis: The Framingham study. Arthritis Rheum 1998;41:1064-71.
    • (1998) Arthritis Rheum , vol.41 , pp. 1064-1071
    • Felson, D.T.1    Couropmitree, N.N.2    Chaisson, C.E.3
  • 6
    • 0033358527 scopus 로고    scopus 로고
    • Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage
    • Chapman K, Mustafa Z, Irven C et al. Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage. Am J Hum Genet 1999;65:167-74.
    • (1999) Am J Hum Genet , vol.65 , pp. 167-174
    • Chapman, K.1    Mustafa, Z.2    Irven, C.3
  • 8
    • 20244378239 scopus 로고    scopus 로고
    • A functional single nucleotide polymorphism in the core promotor region of CALM1 is associated with hip osteoarthritis in Japanese
    • Mototani H, Mabuchi A, Saito S et al. A functional single nucleotide polymorphism in the core promotor region of CALM1 is associated with hip osteoarthritis in Japanese. Hum Mol Genet 2005;14:1009-17.
    • (2005) Hum Mol Genet , vol.14 , pp. 1009-1017
    • Mototani, H.1    Mabuchi, A.2    Saito, S.3
  • 9
    • 32444433647 scopus 로고    scopus 로고
    • Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women
    • Valdes AM, Van Oene M, Hart DJ et al. Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women. Arthritis Rheum 2006;54:533-9.
    • (2006) Arthritis Rheum , vol.54 , pp. 533-539
    • Valdes, A.M.1    Van Oene, M.2    Hart, D.J.3
  • 10
    • 33846236311 scopus 로고    scopus 로고
    • Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee
    • Valdes AM, Loughlin J, Oene MV et al. Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee. Arthritis Rheum 2007;56:137-46.
    • (2007) Arthritis Rheum , vol.56 , pp. 137-146
    • Valdes, A.M.1    Loughlin, J.2    Oene, M.V.3
  • 11
    • 43049122786 scopus 로고    scopus 로고
    • 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
    • Chapman K, Takahashi A, Meulenbelt I et al. 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 2008;17:1497-504.
    • (2008) Hum Mol Genet , vol.17 , pp. 1497-1504
    • Chapman, K.1    Takahashi, A.2    Meulenbelt, I.3
  • 12
    • 0025014963 scopus 로고
    • Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia
    • Knowlton RG, Katzenstein PL, Moskowitz RW et al. Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia. N Engl J Med 1990;322:526-30.
    • (1990) N Engl J Med , vol.322 , pp. 526-530
    • Knowlton, R.G.1    Katzenstein, P.L.2    Moskowitz, R.W.3
  • 13
    • 0029135314 scopus 로고
    • Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis
    • Rivtaniemi P, Korkko J, Bonaventure J, Vikkula M, Hyland J, Paasilta P. Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis. Arthritis Rheum 1995;38:999-1004.
    • (1995) Arthritis Rheum , vol.38 , pp. 999-1004
    • Rivtaniemi, P.1    Korkko, J.2    Bonaventure, J.3    Vikkula, M.4    Hyland, J.5    Paasilta, P.6
  • 14
    • 0034014844 scopus 로고    scopus 로고
    • COL2A1 exon 2 mutations: Relevance to the Stickler and Wagner syndromes
    • Richards AJ, Martin S, Yates JRW et al. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Br J Ophthalmol 2000;84:364-71.
    • (2000) Br J Ophthalmol , vol.84 , pp. 364-371
    • Richards, A.J.1    Martin, S.2    Yates, J.R.W.3
  • 15
    • 9144252010 scopus 로고    scopus 로고
    • A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: Clinical and pathogenetic overlap with collagen IX mutations
    • Jakkula E, Lohiniva J, Capone A et al. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. J Med Genet 2003;40:924-48.
    • (2003) J Med Genet , vol.40 , pp. 924-948
    • Jakkula, E.1    Lohiniva, J.2    Capone, A.3
  • 16
    • 21144442481 scopus 로고    scopus 로고
    • Type II collagen gene variants and inherited osteonecrosis of the femoral head
    • Liu YF, Chen WM, Lin YF et al. Type II collagen gene variants and inherited osteonecrosis of the femoral head. N Engl J Med 2005;352:2294-301.
    • (2005) N Engl J Med , vol.352 , pp. 2294-2301
    • Liu, Y.F.1    Chen, W.M.2    Lin, Y.F.3
  • 17
    • 34249811791 scopus 로고    scopus 로고
    • Collagenase gene regulation by pro-inflammatory cytokines in cartilage
    • Rowan AD, Young DA. Collagenase gene regulation by pro-inflammatory cytokines in cartilage. Front Biosci 2007;12:536-50.
    • (2007) Front Biosci , vol.12 , pp. 536-550
    • Rowan, A.D.1    Young, D.A.2
  • 19
    • 0030877842 scopus 로고    scopus 로고
    • Radiographic hand osteoarthritis: Incidence, patterns, and influence of pre-existing disease in a population based sample
    • Chaisson CE, Zhang Y, McAlindon TE et al. Radiographic hand osteoarthritis: Incidence, patterns, and influence of pre-existing disease in a population based sample. J Rheumatol 1997;24:1337-43.
    • (1997) J Rheumatol , vol.24 , pp. 1337-1343
    • Chaisson, C.E.1    Zhang, Y.2    McAlindon, T.E.3
  • 20
    • 0028904864 scopus 로고
    • Triplet repeat expansion mutations: The example of fragile X syndrome
    • Warren ST, Ashley CT Jr. Triplet repeat expansion mutations: The example of fragile X syndrome. Annu Rev Neurosci 1995;18:77-99.
    • (1995) Annu Rev Neurosci , vol.18 , pp. 77-99
    • Warren, S.T.1    Ashley Jr., C.T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.