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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case-control samples
Arthritis and Rheumatism, Volume 63, No. 2, Year 2011
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Description
Objective Recently, a functional PTPN22 variant (R263Q; rs33996649) was found to be associated with systemic lupus erythematosus (SLE). This study was undertaken to analyze the influence of this polymorphism on the risk of rheumatoid arthritis (RA). Methods RA patients (n = 5,579) were recruited from outpatient clinics from 6 different countries (Spain, New Zealand, the UK, Norway, The Netherlands, and Germany). Healthy controls (n = 5,392) were recruited from the same areas. There was 100% power to detect an effect equivalent to that observed in SLE. Samples were genotyped for the PTPN22 R263Q (rs33996649) and PTPN22 R620W (rs2476601) polymorphisms using a TaqMan 5′-allele discrimination assay. The effect of the R263Q variant was analyzed in isolation and in combination with the effect of R620W, using Unphased and Stata 10 software. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were determined. Results The minor allele A of PTPN22 R263Q was significantly associated with a lower risk of RA in the pooled analysis of the 6 populations (P = 0.016, Mantel-Haenszel pooled OR 0.80 [95% CI 0.67-0.96]), independent of the effect of the R620W polymorphism. Both polymorphisms had an additive effect. The more RA risk alleles carried (R263Q G allele, R620W T allele), the higher the RA risk (for 2 versus 1 risk allele P = 0.014, OR 1.28 [95% CI 1.05-1.55], for 3 versus 1 risk allele P = 6.67 × 10 -11, OR 2.01 [1.63-2.48], and for 4 versus 1 risk allele P = 6.50 × 10-11, OR 3.55 [2.42-5.20]). Conclusion Our findings indicate that the minor allele of the PTPN22 R263Q polymorphism is associated with a lower risk of RA. This association is independent of the well-established association between PTPN22 R620W and RA. Both polymorphisms have an additive effect on the risk of RA. © 2011 by the American College of Rheumatology.
Authors & Co-Authors
Rodríguez-Rodríguez, Luís Pablo
Spain, Armilla
Csic - Instituto de Parasitologia y Biomedicina Lopez Neyra Ipbln
Wan Taib, Wan Rohani
New Zealand, Dunedin
University of Otago
Gónzalez-Escribano, María Francisca
Spain, Sevilla
Hospital Universitario Virgen Del Rocío
Balsa, Alejando
Spain, Madrid
Hospital Universitario la Paz
Pascual-Salcedo, Dora
Spain, Madrid
Hospital Universitario la Paz
González-Gay, Miguel Ángel
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Raya Álvarez, Enriqué G.
Spain, Granada
Hospital Universitario San Cecilio
Fernàndez-Gutiérrez, Benjamín
Spain, Madrid
Hospital Clínico San Carlos
González-Álvaro, Isidoro
Spain, Madrid
Hospital Universitario de la Princesa
Bottini, Nunzio
United States, La Jolla
La Jolla Institute for Immunology
Witte, Torsten
Germany, Hannover
Hannover Medical School
Coenen, Marieke J.H.
Netherlands, Nijmegen
Radboud Universiteit
van Riel, Piet L.C.M.
Netherlands, Nijmegen
Radboud Universiteit
Den Heijer, Martin
Netherlands, Nijmegen
Radboud Universiteit
Radstake, Timothy R.D.J.
Netherlands, Nijmegen
Radboud Universiteit
Wordsworth, Bryan Paul
United Kingdom, Oxford
University of Oxford
Lie, Benedicte Alexandra
Norway, Oslo
Oslo Universitetssykehus
Merriman, Tony R.
New Zealand, Dunedin
University of Otago
Martin, Javier
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Statistics
Citations: 79
Authors: 19
Affiliations: 15
Identifiers
Doi:
10.1002/art.30145
ISSN:
15290131
Research Areas
Genetics And Genomics
Study Design
Case-Control Study
Study Approach
Quantitative