Abstract
OBJECTIVES--To determine whether any of the type II collagen alleles are associated with generalised osteoarthrosis or osteoarthrosis of the finger joints in the genetically isolated Finnish population. METHODS--Two patient cohorts with evidence for only primary osteoarthrosis and a cohort of healthy control subjects were selected from the Helsinki University Central Hospital and the Rheumatism Foundation Hospital in Finland. Forty one patients with primary generalised osteoarthrosis, 49 patients with osteoarthrosis of the finger joints, and 48 control subjects were included. Two markers of the type II collagen gene, a PvuII polymorphism and a VNTR polymorphism, were analysed from each subject. RESULTS--Four different alleles of the VNTR marker were observed and the relative risks associated with the different VNTR alleles varied between 0.39 and 1.24 among the patients with generalised osteoarthrosis and between 0.67 and 2.33 among the patients with osteoarthrosis of the finger joints. The PvuII polymorphism detected two different alleles and the associated relative risks were 0.82 and 1.82 for the patients with generalised osteoarthrosis, and 1.04 and 0.96 for the patients with osteoarthrosis of the finger joints. CONCLUSIONS--A major predisposing allele of the type II collagen gene as the causative factor for osteoarthrosis could be excluded in this population. A spectrum of mutations associated with different alleles of this gene could not be excluded, however. Further, these two forms of cartilage disease can be caused by gene defects with reduced penetrance and the effect of such an allele is easily masked under the high frequency of normal alleles.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Ala-Kokko L., Baldwin C. T., Moskowitz R. W., Prockop D. J. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proc Natl Acad Sci U S A. 1990 Sep;87(17):6565–6568. doi: 10.1073/pnas.87.17.6565. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Knowlton R. G., Katzenstein P. L., Moskowitz R. W., Weaver E. J., Malemud C. J., Pathria M. N., Jimenez S. A., Prockop D. J. Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia. N Engl J Med. 1990 Feb 22;322(8):526–530. doi: 10.1056/NEJM199002223220807. [DOI] [PubMed] [Google Scholar]
- Priestley L., Fergusson C., Ogilvie D., Wordsworth P., Smith R., Pattrick M., Doherty M., Sykes B. A limited association of generalized osteoarthritis with alleles at the type II collagen locus: COL2A1. Br J Rheumatol. 1991 Aug;30(4):272–275. doi: 10.1093/rheumatology/30.4.272. [DOI] [PubMed] [Google Scholar]
- Vikkula M., Palotie A., Ritvaniemi P., Ott J., Ala-Kokko L., Sievers U., Aho K., Peltonen L. Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene. Arthritis Rheum. 1993 Mar;36(3):401–409. doi: 10.1002/art.1780360317. [DOI] [PubMed] [Google Scholar]
- Walakovits L. A., Moore V. L., Bhardwaj N., Gallick G. S., Lark M. W. Detection of stromelysin and collagenase in synovial fluid from patients with rheumatoid arthritis and posttraumatic knee injury. Arthritis Rheum. 1992 Jan;35(1):35–42. doi: 10.1002/art.1780350106. [DOI] [PubMed] [Google Scholar]