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BMJ Publishing Group, Annals of the Rheumatic Diseases, 12(71), p. 1984-1990, 2012

DOI: 10.1136/annrheumdis-2011-201225

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Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients

This paper is available in a repository.
This paper is available in a repository.

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Abstract

IntroductionThere are now over 30 confirmed loci predisposing to rheumatoid arthritis (RA). Studies have been largely undertaken in patients with anticyclic citrullinated peptide (anti-CCP) positive RA, and some genetic associations appear stronger in this subgroup than in anti-CCP negative disease, although few studies have had adequate power to address the question. The authors therefore investigated confirmed RA susceptibility loci in a large cohort of anti-CCP negative RA subjects.METHODS: RA patients and controls, with serological and genetic data, were available from UK Caucasian patients (n=4068 anti-CCP positive, 2040 anti-CCP negative RA) and 13,009 healthy controls. HLA-DRB1 genotypes and 36 single nucleotide polymorphisms were tested for association between controls and anti-CCP positive or negative RA.RESULTS: The shared epitope (SE) showed a strong association with anti-CCP positive and negative RA, although the effect size was significantly lower in the latter (effect size ratio=3.18, p