Authors: Kirk, Katherine M.¹; Doege, Kurt J.²; Hecht, Jacqueline³; Bellamy, Nicholas⁴; Martin, Nicholas G.⁵

Source: Twin Research, Volume 6, Number 1, 1 February 2003 , pp. 62-66(5)

Publisher: Australian Academic Press

Abstract:

Age-related changes in the composition of the cartilage matrix may be associated with the development of osteoarthritis, a relatively late-onset disease characterised by the destruction of joint cartilage. In order to investigate whether differences in the VNTR polymorphic region of aggrecan affect cartilage functionality and therefore the development of osteoarthritis, we examined the aggrecan polymorphic genotypes of a sample of 134 Australian twins aged over 50 (including 34 monozygotic and 27 dizygotic twin pairs). Clinical measures of hand, hip and knee osteoarthritis, as well as self-reported bone and joint pain, were tested for association with the aggrecan polymorphism. The results were consistent with either a deleterious effect of allele 27, or a protective effect of alleles 25 and 28, providing some additional evidence for an association between the aggrecan VNTR polymorphism and osteoarthritis of the hands, hips and knees.

Document Type: Research article

DOI: http://dx.doi.org/10.1375/136905203762687915

Affiliations: 1: Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia 2: Department of Biochemistry and Molecular Biology, University of South Florida, USA 3: Department of Pediatrics, University of Texas Medical School at Houston, Houston, USA 4: Centre of National Research on Disability and Rehabilitation Medicine (CONROD), The University of Queensland, Brisbane, Australia 5: Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Post Office, Royal Brisbane Hospital, Brisbane QLD 4029, Australia. Email: nickM@qimr.edu.au

Publication date: 2003-02-01

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