RT Journal Article SR Electronic T1 Evidence for PTPN22 R620W Polymorphism As the Sole Common Risk Variant for Rheumatoid Arthritis in the 1p13.2 Region JF The Journal of Rheumatology JO J Rheumatol FD The Journal of Rheumatology SP 2290 OP 2296 DO 10.3899/jrheum.110361 VO 38 IS 11 A1 JOSE-EZEQUIEL MARTÍN A1 BEHROOZ Z. ALIZADEH A1 MIGUEL A. GONZÁLEZ-GAY A1 ALEJANDRO BALSA A1 DORA PASCUAL-SALCEDO A1 MARÍA F. GONZÁLEZ-ESCRIBANO A1 LUIS RODRIGUEZ-RODRIGUEZ A1 BENJAMÍN FERNÁNDEZ-GUTIÉRREZ A1 ENRIQUE RAYA A1 MARIEKE J.H. COENEN A1 PIET van RIEL A1 TIMOTHY R.D.J. RADSTAKE A1 TORE K. KVIEN A1 MARTE K. VIKEN A1 BENEDICTE A. LIE A1 BOBBY P.C. KOELEMAN A1 JAVIER MARTÍN YR 2011 UL http://www.jrheum.org/content/38/11/2290.abstract AB 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.