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Evidence for PTPN22 R620W Polymorphism As the Sole Common Risk Variant for Rheumatoid Arthritis in the 1p13.2 Region

Evidence for PTPN22 R620W Polymorphism As the Sole Common Risk Variant for Rheumatoid Arthritis in the 1p13.2 Region

Authors :
Javier Martín
Alejandro Balsa
Tore K Kvien
Dora Pascual-Salcedo
Piet L. C. M. van Riel
María Francisca González-Escribano
Marieke J H Coenen
Benedicte A. Lie
Bobby P. C. Koeleman
Enrique Raya
Timothy R D J Radstake
Behrooz Z. Alizadeh
Jose Ezequiel Martin
Marte K. Viken
Luis Rodriguez-Rodriguez
Benjamín Fernández-Gutiérrez
Miguel A. González-Gay
Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)
Life Course Epidemiology (LCE)
Source :
Journal of Rheumatology, 38(11), 2290-2296. J RHEUMATOL PUBL CO, The Journal of Rheumatology, 38, 2290-6, The Journal of Rheumatology, 38, 11, pp. 2290-6
Publication Year :
2011

Abstract

Objective.The PTPN22 rs2476601 genetic variant has been associated with rheumatoid arthritis (RA) and other autoimmune diseases. Some reports suggest that this single-nucleotide polymorphism (SNP) may not be the only causal variant in the region of PTPN22. Our aim was to identify new independent RA-associated common gene variants in the PTPN22 region.Methods.We analyzed Wellcome Trust Case-Control Consortium genome-wide association study data for associations in the 397.2 kb PTPN22 region and selected 9 associated SNP (with p < 5 × 10−3) for replication and dependence analysis. The replication cohorts comprised 2857 patients with RA and 2994 controls from Spain, Netherlands, and Norway.Results.We found that 6 of the 9 selected SNP were associated in the Spanish cohort. Of these, 4 were also associated in the Dutch and Norwegian cohorts, and all 6 were associated with RA in the combined analysis. Conditional analyses showed that none of these associations was independent of rs2476601.Conclusion.The SNP rs2476601 located in the PTPN22 gene is the sole common genetic variant associated with RA in the 1p13.2 region, suggesting that neighbor genes of PTPN22 do not have a major influence in RA.

Details

Language :
English
ISSN :
0315162X
Volume :
38
Issue :
11
Database :
OpenAIRE
Journal :
Journal of Rheumatology
Accession number :
edsair.doi.dedup.....bb3e7db9fcd5e348b8747fc6d2c07b44