A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities

Nat Genet. 2005 May;37(5):478-85. doi: 10.1038/ng1540. Epub 2005 Apr 17.

Abstract

Rheumatoid arthritis is a common autoimmune disease with a complex genetic etiology. Here we identify a SNP in the promoter region of FCRL3, a member of the Fc receptor-like family, that is associated with susceptibility to rheumatoid arthritis (odds ratio = 2.15, P = 0.00000085). This polymorphism alters the binding affinity of nuclear factor-kappaB and regulates FCRL3 expression. We observed high FCRL3 expression on B cells and augmented autoantibody production in individuals with the disease-susceptible genotype. We also found associations between the SNP and susceptibility to autoimmune thyroid disease and systemic lupus erythematosus. FCRL3 may therefore have a pivotal role in autoimmunity.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Arthritis, Rheumatoid / genetics*
  • Arthritis, Rheumatoid / immunology
  • Arthritis, Rheumatoid / metabolism
  • Autoimmunity / genetics*
  • Autoimmunity / immunology
  • Autoimmunity / physiology
  • Case-Control Studies
  • Chromosomes, Human, Pair 1
  • Gene Expression Regulation / physiology
  • HLA-DR Antigens / genetics
  • HLA-DR Antigens / immunology
  • HLA-DRB1 Chains
  • Humans
  • Linkage Disequilibrium
  • Molecular Sequence Data
  • Multigene Family
  • Mutation
  • Polymorphism, Single Nucleotide
  • Receptors, Immunologic / genetics*
  • Receptors, Immunologic / metabolism

Substances

  • FCRL3 protein, human
  • HLA-DR Antigens
  • HLA-DRB1 Chains
  • Receptors, Immunologic

Associated data

  • RefSeq/NM_052939