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Recent advances in the genetics of rheumatoid arthritis

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Abstract

Recent progress in defining the role of genetic factors in rheumatoid arthritis (RA) has been remarkable. Anticyclic citrullinated peptide (anti-CCP) antibody-positive disease appears to be immunogenetically distinct from anti-CCP-negative disease, with the former subgroup primarily responsible for association and linkage with the HLA-DRB1 shared epitope (SE). There is preliminary evidence that non-HLA genes contribute differentially to anti-CCP-positive and negative disease. The phenotypic differences evident in anti-CCP-positive and negative disease suggest a need to reclassify RA based on the presence or absence of this autoantibody. Some recent work also suggests marked interactions between cigarette smoking, anti-CCP antibodies, and the SE, though these relationships may vary across populations. Lastly, a recent single nucleotide polymorphism-based genome-wide linkage analysis of multicase RA families revealed novel genomic regions that likely contain genes that predispose to RA or more specific phenotypes.

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Authors and Affiliations

  1. Rosalind Russell Medical Research Center for Arthritis, University of California, San Francisco, 374 Parnassus Avenue, Box 0500, 94143-0500, San Francisco, CA, USA

    Lindsey A. Criswell MD, MPH

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  1. Chris Deighton MD, FRCP
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  2. Lindsey A. Criswell MD, MPH
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Correspondence to Lindsey A. Criswell MD, MPH.

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Deighton, C., Criswell, L.A. Recent advances in the genetics of rheumatoid arthritis. Curr Rheumatol Rep 8, 394–400 (2006). https://doi.org/10.1007/s11926-006-0071-x

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