Tags

Type your tag names separated by a space and hit enter

Investigation of chromosome 2q in osteoarthritis of the hand: no significant linkage in a Tasmanian population.
Ann Rheum Dis. 2002 Dec; 61(12):1081-4.AR

Abstract

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.

Links

PMC Free PDF

Authors+Show Affiliations

Stankovich J
Menzies Centre for Population Health Research, University of Tasmania, GPO Box 252-23, Hobart, Tasmania, 7001, Australia. Jim.Stankovich@utas.edu.au
Sale MM
No affiliation info available
Cooley HM
No affiliation info available
Bahlo M
No affiliation info available
Reilly A
No affiliation info available
Dickinson JL
No affiliation info available
Jones G
No affiliation info available

MeSH

AdultAgedAnalysis of VarianceChromosomes, Human, Pair 2Disease SusceptibilityFamilyFemaleFinger JointGenetic LinkageHandHumansLod ScoreMaleMiddle AgedOsteoarthritisPhenotypeRadiographyTasmania

Pub Type(s)

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

Language

eng

PubMed ID

12429539

Citation

Stankovich, J, et al. "Investigation of Chromosome 2q in Osteoarthritis of the Hand: No Significant Linkage in a Tasmanian Population." Annals of the Rheumatic Diseases, vol. 61, no. 12, 2002, pp. 1081-4.
Stankovich J, Sale MM, Cooley HM, et al. Investigation of chromosome 2q in osteoarthritis of the hand: no significant linkage in a Tasmanian population. Ann Rheum Dis. 2002;61(12):1081-4.
Stankovich, J., Sale, M. M., Cooley, H. M., Bahlo, M., Reilly, A., Dickinson, J. L., & Jones, G. (2002). Investigation of chromosome 2q in osteoarthritis of the hand: no significant linkage in a Tasmanian population. Annals of the Rheumatic Diseases, 61(12), 1081-4.
Stankovich J, et al. Investigation of Chromosome 2q in Osteoarthritis of the Hand: No Significant Linkage in a Tasmanian Population. Ann Rheum Dis. 2002;61(12):1081-4. PubMed PMID: 12429539.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Investigation of chromosome 2q in osteoarthritis of the hand: no significant linkage in a Tasmanian population. AU - Stankovich,J, AU - Sale,M M, AU - Cooley,H M, AU - Bahlo,M, AU - Reilly,A, AU - Dickinson,J L, AU - Jones,G, PY - 2002/11/14/pubmed PY - 2003/1/8/medline PY - 2002/11/14/entrez SP - 1081 EP - 4 JF - Annals of the rheumatic diseases JO - Ann Rheum Dis VL - 61 IS - 12 N2 - 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. SN - 0003-4967 UR - https://www.unboundmedicine.com/medline/citation/12429539/Investigation_of_chromosome_2q_in_osteoarthritis_of_the_hand:_no_significant_linkage_in_a_Tasmanian_population_ DB - PRIME DP - Unbound Medicine ER -