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HLA-linked rheumatoid arthritis

S J Hasstedt1, D O Clegg, L Ingles

  • 1Department of Human Genetics, University of Utah, Salt Lake City 84112.

American Journal of Human Genetics
|October 1, 1994
PubMed
Summary
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A specific gene linked to the Human Leukocyte Antigen (HLA) system contributes significantly to rheumatoid arthritis (RA) susceptibility. This HLA-linked locus explains about half of familial RA cases, with varying penetrance in males and females.

Area of Science:

  • Immunogenetics
  • Rheumatology
  • Human Genetics

Background:

  • Rheumatoid arthritis (RA) is a complex autoimmune disease with a significant genetic component.
  • Previous studies suggest a role for the Human Leukocyte Antigen (HLA) complex in RA pathogenesis.
  • Familial aggregation studies indicate shared genetic and environmental factors influence RA risk.

Purpose of the Study:

  • To statistically characterize an HLA-linked rheumatoid arthritis susceptibility locus.
  • To estimate the allele frequency and penetrance of this RA susceptibility locus.
  • To determine the contribution of the HLA-linked locus to familial and population-based RA.

Main Methods:

  • Ascertainment of 28 pedigrees with at least two first-degree relatives diagnosed with RA.

Related Experiment Videos

  • Serological typing for HLA in 77 affected and 261 unaffected pedigree members.
  • Likelihood analysis assuming tight linkage to HLA to model genetic inheritance and penetrance.

    • Main Results:

    • Supported the existence of an HLA-linked RA susceptibility locus.
    • Estimated susceptibility allele frequency at 2.16% and lifetime penetrance at 41% (males) and 48% (females).
    • Inheritance pattern was recessive in males and nearly recessive in females; 78% of genotypic variance attributed to shared sibling factors.

    Conclusions:

    • The identified HLA-linked locus is a major contributor to familial rheumatoid arthritis, accounting for approximately 50% of cases.
    • This locus explains a smaller proportion (approx. 20%) of RA in the general population.
    • Other genetic factors likely contribute to the remaining familial RA, and many RA cases may be sporadic.