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Rheumatology 2000; 39: 377-381
© 2000 British Society for Rheumatology

Linkage analysis of chromosome 2q in osteoarthritis

J. Loughlin, Z. Mustafa, A. Smith, C. Irven, A. J. Carr1, K. Clipsham1, J. Chitnavis1, V. A. Bloomfield1, M. McCartney2, O. Cox1, J. S. Sinsheimer3, B. Sykes and K. E. Chapman

University of Oxford, Institute of Molecular Medicine, Oxford,
1 Nuffield Orthopaedic Centre, Oxford,
2 Musgrave Park Hospital, Belfast, UK and
3 Departments of Biomathematics and Biostatistics, University of California, Los Angeles, USA

Background In independent linkage studies chromosome 2q11-q24 and chromosome 2q23–35 have previously been implicated as regions potentially harbouring susceptibility loci for osteoarthritis (OA).

Objective. To test chromosome 2q for linkage to idiopathic osteoarthritis.

Methods. Using a cohort of 481 OA families that each contained at least one affected sibling pair with severe end-stage disease (ascertained by hip or knee joint replacement surgery), we conducted a linkage analysis of chromosome 2q using 16 polymorphic microsatellite markers at an average spacing of one marker every 8.5 cM.

Results. Our results provide suggestive evidence for a locus at 2q31 with a maximum multipoint logarithm of the odds score (MLS) of 1.22 which increased to 2.19 in those families concordant for hip-only disease (n = 311). This suggestive linkage was greater in male-hip families (MLS = 1.57, n = 71) than in female-hip families (MLS = 0.71, n = 132).

Conclusions. Chromosome 2q is likely to contain at least one susceptibility locus for OA.

KEY WORDS: Osteoarthritis, Linkage, Affected sibling pairs, Chromosome 2q, Susceptibility loci

Correspondence to: J. Loughlin.


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