Rheumatology Advance Access originally published online on February 20, 2006
Rheumatology 2006 45(8):1009-1011; doi:10.1093/rheumatology/kei250
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Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients
Botnar Research Centre, University of Oxford, Nuffield Orthopaedic Centre, Oxford OX3 7LD, UK.
Correspondence to: P. Harrison, Botnar Research Centre, University of Oxford, Nuffield Orthopaedic Centre, Oxford OX3 7LD, UK. E-mail: pille.harrison{at}ndos.ox.ac.uk
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 PCRrestriction fragment length polymorphism assay. Data were analysed using SPSS software and the
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 1.091.79). 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 1.11.9). 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.
KEY WORDS: PTPN22, Rheumatoid arthritis, HLA, Risk allele, Rheumatoid factor positive
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