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Osteoarthritis of the Hands, Hips and Knees in an Australian Twin Sample — Evidence of Association with the Aggrecan VNTR Polymorphism

Published online by Cambridge University Press:  21 February 2012

Katherine M. Kirk ,
Kurt J. Doege ,
Jacqueline Hecht ,
Nicholas Bellamy  and
Nicholas G. Martin
Katherine M. Kirk
Affiliation:
Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia.
Kurt J. Doege
Affiliation:
Department of Biochemistry and Molecular Biology, University of South Florida, USA.
Jacqueline Hecht
Affiliation:
Department of Pediatrics, University of Texas Medical School at Houston, Houston, USA.
Nicholas Bellamy
Affiliation:
Centre of National Research on Disability and Rehabilitation Medicine (CONROD),The University of Queensland, Brisbane, Australia.
Nicholas G. Martin*
Affiliation:
Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia. [email protected]
*
*Address for correspondence: Nick Martin, Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Post Office, Royal Brisbane Hospital, Brisbane QLD 4029, Australia.

Abstract

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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.

Type
Articles
Information
Twin Research and Human Genetics , Volume 6 , Issue 1 , 01 February 2003 , pp. 62 - 66
Copyright
Copyright © Cambridge University Press 2003