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

Harrison, P., Pointon, J., Farrar, C., Brown, M. A. and Wordsworth, B. P. (2006) Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients. Rheumatology, 45 8: 1009-1011. doi:10.1093/rheumatology/kei250


Author Harrison, P.
Pointon, J.
Farrar, C.
Brown, M. A.
Wordsworth, B. P.
Title Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients
Journal name Rheumatology   Check publisher's open access policy
ISSN 0080-2727
Publication date 2006-08-01
Sub-type Article (original research)
DOI 10.1093/rheumatology/kei250
Open Access Status Not yet assessed
Volume 45
Issue 8
Start page 1009
End page 1011
Total pages 3
Place of publication Oxford
Publisher Oxford University Press
Language eng
Subject C1
320204 Immunogenetics
730114 Skeletal system and disorders (incl. arthritis)
Formatted 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
v2 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.
Keyword PTPN22
Rheumatoid arthritis
HLA
Risk allele
Rheumatoid factor positive
Single-nucleotide Polymorphism
Systemic-lupus-erythematosus
Tyrosine-phosphatase Ptpn22
Autoimmune Thyroid-disease
R620w Polymorphism
Rheumatology
Association
Population
Families
Gene
Inheritance
Q-Index Code C1

 
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Created: Wed, 15 Aug 2007, 20:03:09 EST