title: Recent advances in the genetics of rheumatoid arthritis.
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.
authors.affiliation: Rosalind Russell Medical Research Center for Arthritis, University of California-San Francisco, 374 Parnassus Avenue, Box 0500, San Francisco, CA 94143-0500, USA.
authors.forename: Chris
authors.initials: C
authors.lastname: Deighton
authors.forename: Lindsey A
authors.initials: LA
authors.lastname: Criswell
mesh_terms: D001172:Arthritis, Rheumatoid / Q000235:genetics* / Q000276:immunology; D001323:Autoantibodies / Q000235:genetics*; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D010456:Peptides, Cyclic / Q000276:immunology
chemical_list: D001323:Autoantibodies; D006680:HLA Antigens; D010456:Peptides, Cyclic; C487763:cyclic citrullinated peptide