The role of genetic factors in the etiology of osteoarthritis;

The role of genetic factors in the etiology of osteoarthritis;

Slagboom, P.E.
Breedveld, F.C.
Meulenbelt, I.
Gaubius Instituut TNO

Knook, D.L. (editor)
Dittmann-Kohli, F. (editor)
Duursma, S.A. (editor)
Huijbers, P.W.J.M. (editor)
Knipscheer, C.P.M. (editor)
Ribbe, M.W. (editor)
Rutten, F.F. (editor)
van Santvoort, M.M. (editor)

1995

Osteoarthritis (OA) ls characterized by degeneration ol the articular cartilage and formation of new bone. Little is known about the etiology of this multifactorial disease. The most ¡mportant r¡sk factors are age, trauma, obesity, metabolic disturbances, anatomical abnormal¡ties and genetic predisposition. The role of genetic factors in the etiology of OA is investigated in a Dutch family in which primary generalized ón (OOn), occlrring at an early age of onset (20-25 years), is inherited in a dominant ÑIendelian fashion. ln this îamily genelic linkage studies are now being performed by using polymorphic DNA markers in various candidate genes for OA. The analysis of the collagen type II, lX and Xl genes will be presented. These collagens form a network in articular cartilage which is crucial in resrstìng mechanical stress ot the joint. Apart form the search for severe mutations causing early o.nset oA,-the hypothesis will be tested that mild mutations in the same candidate genes are involved ín GOA occurring at later ages (between 50 and 70 years of age). To investigate the relation between collagen genes ãnd GOA in tre Dutch population disease assoc¡at¡on and atlected sib pair studies will Ue pãrformeO. As a first step towards such studies we have determined haplotype lrequencies of 7 RFLP sites and a VNTR site in the collagen type II gene, and allele frequencies of dinucleotide repeats in collagen type lX and collagen type Xl genes in random Dutch individuals.

Abstract

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http://resolver.tudelft.nl/uuid:a3d887f5-d1a9-4251-a3cb-488454d4dbc2

286866

Netherlands lnstitute of Gerontology (NlG), Utrecht

9070911280

Ageing in a changing Europe, 3rd European congress of gerontology, 1p.

Abstr. no. 0580

conference paper