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

Harrison, P., Pointon, J. J., Farrar, C., Brown, M. A., & Wordsworth, B. P. (2006) Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients. Rheumatology, 45(8), pp. 1009-1011.

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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 χ 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.

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ID Code: 89481
Item Type: Journal Article
Refereed: Yes
Keywords: HLA, PTPN22, Rheumatoid arthritis, Rheumatoid factor positive, Risk allele, cysteine, epitope, HLA DR antigen, protein tyrosine phosphatase, protein tyrosine phosphatase N22, rheumatoid factor, threonine, unclassified drug, adult, article, Caucasian, clinical feature, controlled study, female, gene frequency, genetic association, genetic code, genetic risk, genetic susceptibility, genotype, human, major clinical study, male, phenotype, polymerase chain reaction, priority journal, restriction fragment length polymorphism, risk assessment, single nucleotide polymorphism, validation study, volunteer, Arthritis, Rheumatoid, Genetic Predisposition to Disease, HLA-DR Antigens, Humans, Middle Aged, Polymorphism, Restriction Fragment Length, Polymorphism, Single Nucleotide, Protein-Tyrosine-Phosphatase
DOI: 10.1093/rheumatology/kei250
ISSN: 1462-0324
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2006 The Authors
Deposited On: 25 Oct 2015 23:37
Last Modified: 26 Oct 2015 00:41

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