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Lumbar disc disease shows linkage to chromosome 19 overlapping with a QTL for hand OA
  1. F M K Williams1,
  2. B S Kato1,
  3. G Livshits2,
  4. P N Sambrook3,
  5. T D Spector1,
  6. A J MacGregor4
  1. 1
    King’s College London, London, UK
  2. 2
    Tel Aviv University Medical School, Tel Aviv, Israel
  3. 3
    Institute of Bone and Joint Research, Sydney, Australia
  4. 4
    University of East Anglia, Norwich, UK
  1. Dr Frances M K Williams, Twin Research and Epidemiology Unit, King’s College London, St Thomas’ Campus, Lambeth Palace Road, London SE1 7EH, UK; frances.m.williams{at}


Objective: Cervical and lumbar degenerative disc disease (CDD and LDD, respectively) form part of the spine osteoarthritis (OA) phenotype and are known to be influenced by genetic factors. A genome-wide linkage analysis was performed to identify new chromosomal regions of interest.

Methods: Dizygotic healthy female twin volunteers (n = 348) from the TwinsUK register who had magnetic resonance imaging scans 10 years ago coded for degenerative disease, were identified. Multipoint genome-wide linkage analysis was conducted using 737 highly polymorphic markers of approximate spacing 10 cM.

Results: The mean age of the twins was 52 years. Significant linkage peaks (log of the odds (LOD) >3) were identified for LDD at three chromosomal regions. These included chromosome 1 (position 285 cM), chromosome 5 (position 175 cM) and chromosome 19 (position 80 cM). The peak on chromosome 19 had LOD = 4.06, and the empirical p = 6.7×10-4 confirmed reliability of the linkage signal. It lies close to a linkage peak previously obtained by our group for hand OA.

Conclusions: This genome-wide linkage study of CDD and LDD shows evidence of linkage for LDD on chromosome 19. The region of interest is likely to harbour genes that are common to LDD and hand OA.

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  • Funding: This study was funded by the Arthritis Research Campaign.

  • Competing interests: None.

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