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Genetics of rheumatoid arthritis

Authoring team

Twin studies have shown disease concordance of:

  • 12-15% in monozygotic twins; the concordance is increased with disease severity
  • 4% in dizygotic twins

There is an increased risk of rheumatoid arthritis in relatives of those with severe seropositive disease.

There is a clear association with race; for example, there is a high prevalence in specific American Indian tribes.

There is particular linkage of disease to small areas of the HLA region on chromosome 6, in particular:

  • DRB1*0401
  • DRB1*0404

The presence of HLA DR4 alleles is a poor prognostic factor.

Reference:

  • 1) Lee, DM & Weinblatt, ME. Rheumatoid arthritis. Lancet 2001, 358, 903-11.
  • 2) J Rheumatol (1999), 26, 47-53.

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