Is rheumatoid arthritis (RA) genetic?

Updated: Feb 07, 2020
  • Author: Howard R Smith, MD; Chief Editor: Herbert S Diamond, MD  more...
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Genetic factors account for 50% of the risk for developing RA. [10] About 60% of RA patients in the United States carry a shared epitope of the human leukocyte antigen (HLA)-DR4 cluster, which constitutes one of the peptide-binding sites of certain HLA-DR molecules associated with RA (eg, HLA-DR beta *0401, 0404, or 0405). HLA-DR1 (HLA-DR beta *0101) also carries this shared epitope and confers risk, particularly in certain southern European areas. Other HLA-DR4 molecules (eg, HLA-DR beta *0402) lack this epitope and do not confer this risk.

Genes other than those of the major histocompatibility complex (MHC) are also involved. Results from sequencing genes of families with RA suggest the presence of several resistance and susceptibility genes, including PTPN22 and TRAF5. [11, 12]

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