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Genetic influences on osteoarthritis in women: a twin study

BMJ 1996; 312 doi: https://doi.org/10.1136/bmj.312.7036.940 (Published 13 April 1996) Cite this as: BMJ 1996;312:940
  1. Tim D Spector, consultant rheumatologista,
  2. Flavia Cicuttini, research fellowa,
  3. Juliet Baker, research nursea,
  4. John Loughlin, research scientistb,
  5. Deborah Hart, research therapista
  1. a Department of Rheumatology, St Thomas's Hospital, London SE1 7EH
  2. b Collagen Genetics Unit, Institute of Molecular Medicine, Oxford
  1. Correspondence to: Dr Spector.
  • Accepted 9 January 1996

Abstract

Objectives: To assess the relative contribution of genetic and environmental factors to common forms of osteoarthritis of the hands and knees.

Design: Classic twin study with unselected twins who were screened radiologically for osteoarthritis.

Subjects: 130 identical and 120 non-identical female twins aged 48-70 recruited from a London based twin register and through a national media campaign.

Main outcome measures: Similarity in identical compared with non-identical twin pairs for radiographic changes at the interphalangeal and first carpometacarpal joints of the hands and the tibiofemoral joint and patellofemoral joint of the knee expressed as intraclass correlations.

Results: The intraclass correlations of radiographic osteophytes and narrowing at most sites and the presence of Heberden's nodes and knee pain were higher in the identical pairs. The intraclass correlation of the total radiographic osteoarthritis score in identical pairs (rMZ) was 0.64 (SE 0.05) compared with 0.38 (0.08) in non-identical pairs. The proportion of genetic variance of total osteoarthritis score (osteophytes and narrowing) with modelling techniques was estimated at 0.54 (95% confidence interval 0.43 to 0.65) and ranged from 0.39 to 0.65 for different sites and features (P<0.001) after adjustment for age and weight.

Conclusions: These results demonstrate for the first time a clear genetic effect for radiographic osteoarthritis of the hand and knee in women, with a genetic influence ranging from 39-65%, independent of known environmental or demographic confounders. The results of this study should lead to further work on isolating the gene or genes involved in the pathogenesis of this common disabling disease.

Key messages

  • Key messages

  • Although environmental factors have traditionally been thought to be the main influences, there are few data to support this

  • Between 39% and 65% of osteoarthritis in the general population can be attributed to genetic factors

  • Identification of the genes concerned could have a large impact on the disease in terms of prevention and new therapeutic approaches

Footnotes

  • Funding Project Grant S150 from the Arthritis and Rheumatism Council. F C is an Australian NHMRC Neil Hamilton-Fairley Fellow.

  • Conflict of interest None.

  • Accepted 9 January 1996
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