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Rheumatology Advance Access published online on February 20, 2006
Rheumatology, doi:10.1093/rheumatology/kei250
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© The Author 2006. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received July 3, 2005
Accepted November 11, 2005

Original Papers

Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients

P. Harrison 1 *, J. J. Pointon 1, C. Farrar 1, M. A. Brown 1, and B. P. Wordsworth 1

1 Botnar Research Centre, University of Oxford, Nuffield Orthopaedic Centre, Oxford OX3 7LD, UK

* To whom correspondence should be addressed.
P. Harrison, E-mail: pille.harrison{at}ndos.ox.ac.uk


  Abstract

Objectives. To confirm the association of a functional single-nucleotide polymorphism (SNP), C1858T (rs2476601), in the PTPN22 gene of British Caucasian rheumatoid arthritis (RA) patients and to evaluate its influence on the RA phenotype.

Methods. A total of 686 RA patients and 566 healthy volunteers, all of British Caucasian origin, were genotyped for C1858T polymorphism by PCR-restriction fragment length polymorphism assay. Data were analysed using SPSS software and the {chi}2 test as applicable.

Results. The PTPN22 1858T risk allele was more prevalent in the RA patients (13.9%) compared with the healthy controls (10.3%) (P=0.008, odds ratio 1.4, 95% confidence interval 1.09-1.79). The association of the T allele was restricted to those with rheumatoid factor (RF)-positive disease (n=524, 76.4%) (P=0.004, odds ratio 1.5, 95% confidence interval 1.1-1.9). We found no association between PTPN22 and the presence of the HLA-DRB1 shared epitope or clinical characteristics.

Conclusions. We confirmed the previously reported association of PTPN22 with RF-positive RA, which was independent from the HLA-DRB1 genotype.

Keywords: PTPN22; Rheumatoid arthritis; HLA; Risk allele; Rheumatoid factor positive..
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