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Linkage analysis of candidate genes as susceptibility loci for osteoarthritis-suggestive linkage of COL9A1 to female hip osteoarthritis

Lookup NU author(s): Dr Kaye Chapman, Professor John LoughlinORCiD


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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.

Publication metadata

Author(s): Loughlin J; Chapman K; Mustafa Z; Irven C; Carr AJ; Clipsham K; Chitnavis J; Sinsheimer JS; Bloomfield VA; McCartney M; Cox O; Sykes B

Publication type: Article

Publication status: Published

Journal: Rheumatology

Year: 2000

Volume: 39

Issue: 3

Pages: 299-306

ISSN (print): 1462-0324

ISSN (electronic): 1662-3959

Publisher: S Karger AG


DOI: 10.1093/rheumatology/39.3.299

Notes: Journal Article Research Support, Non-U.S. Gov't England


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