Evidence for PTPN22 R620W polymorphism as the sole common risk variant for rheumatoid arthritis in the 1p13.2 region

Jose-Ezequiel Martín, Behrooz Z Alizadeh, Miguel A González-Gay, Alejandro Balsa, Dora Pascual-Salcedo, María F González-Escribano, Luis Rodriguez-Rodriguez, Benjamín Fernández-Gutiérrez, Enrique Raya, Marieke J H Coenen, Piet van Riel, Timothy R D J Radstake, Tore K Kvien, Marte K Viken, Benedicte A Lie, Bobby P C Koeleman, Javier Martín

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)2290-6
Number of pages7
JournalJournal of Rheumatology
Issue number11
Publication statusPublished - Nov 2011


  • Arthritis, Rheumatoid
  • Case-Control Studies
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Netherlands
  • Norway
  • Polymorphism, Single Nucleotide
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22
  • Risk Factors
  • Spain
  • Journal Article
  • Research Support, Non-U.S. Gov't


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