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Investigation of chromosome 2q in osteoarthritis of the hand: no significant linkage in a Tasmanian population


Stankovich, J and Sale, MM and Cooley, HM and Bahlo, M and Reilly, A and Dickinson, JL and Jones, G, Investigation of chromosome 2q in osteoarthritis of the hand: no significant linkage in a Tasmanian population, Annals of the Rheumatic Diseases, 61, (12) pp. 1081-1084. ISSN 0003-4967 (2002) [Refereed Article]

DOI: doi:10.1136/ard.61.12.1081


Background: Previous studies have suggested a strong genetic component to osteoarthritis (OA), especially that of the hand, and three linkage studies have suggested the existence of susceptibility loci in disparate regions of chromosome 2q. Objective: To examine for linkage to 2q in a Tasmanian population of women and men with familial hand OA. Methods: Hand OA (distal interphalangeal, carpometacarpal, and Heberden's nodes) was assessed by a combination of hand photographs and radiographs. A non-parametric linkage (NPL) analysis was performed on chromosome 2q of 69 members in 22 families with severe distal interphalangeal joint OA using Genehunter. A quantitative trait linkage analysis of a larger group of 456 members in 68 families was also performed using SOLAR. Results: The maximum non-parametric linkage score was 1.05 (p=0.15) at marker IL1R1, close to the centromere. All components of hand OA scores had significant heritability in this dataset (28%-35%, all p<0.001). Despite this, the quantitative trait analysis (after adjustment for age and, where appropriate, sex) yielded maximum LOD scores of 0.90 for Heberden's nodes (both sexes combined), and 1.19 for carpometacarpal OA score (women only). Conclusions: These results do not provide confirmation of linkage on chromosome 2q in the larger white population with hand OA. They suggest that there are regional variations in the genetic cause of hand OA and that other loci not on 2q may be important in this disease.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Clinical sciences
Research Field:Medical genetics (excl. cancer genetics)
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Stankovich, J (Dr Jim Stankovich)
UTAS Author:Sale, MM (Dr Michele Sale)
UTAS Author:Cooley, HM (Dr Helen Cooley)
UTAS Author:Reilly, A (Ms Anne Reilly)
UTAS Author:Dickinson, JL (Professor Joanne Dickinson)
UTAS Author:Jones, G (Professor Graeme Jones)
ID Code:24706
Year Published:2002
Web of Science® Times Cited:12
Deposited By:Menzies Centre
Deposited On:2002-08-01
Last Modified:2003-04-09

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