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OBJECTIVE: To examine 11 candidate genes as susceptibility loci for osteoarthritis (OA). METHODS: A total of 481 families have been ascertained in which at least two siblings have had joint replacement surgery of the hip, or knee, or hip and knee for idiopathic OA. Each candidate gene was targeted using one or more intragenic or closely linked microsatellite marker. The linkage data were analysed unstratified and following stratification by sex and by joint replaced (hip or knee). RESULTS: The analyses revealed suggestive linkage of the type IX collagen gene COL9A1 (6q12-q13) to a subset of 132 families that contained affected females who were concordant for hip OA (female-hip) with a P-value of 0.00053 and logarithm of the odds (LOD) score of 2.33 [corrected P-value of 0. 0016, corrected LOD score of 1.85]. CONCLUSIONS: COL9A1 may therefore be a susceptibility locus for female hip OA. In addition, there was weak evidence of linkage to HLA/COL11A2 (6p21.3) in female hip OA with a corrected P-value of 0.016.

Original publication

DOI

10.1093/rheumatology/39.3.299

Type

Journal article

Journal

Rheumatology (Oxford, England)

Publication Date

03/2000

Volume

39

Pages

299 - 306

Addresses

University of Oxford, Institute of Molecular Medicine, Oxford, Nuffield Orthopaedic Centre, Oxford, UK.

Keywords

Humans, Osteoarthritis, Knee, Osteoarthritis, Hip, Genetic Predisposition to Disease, Collagen, DNA, Genetic Markers, Arthroplasty, Replacement, Chromosome Mapping, Polymerase Chain Reaction, Microsatellite Repeats, Lod Score, Female, Male, Genetic Linkage