title: Evidence for PTPN22 R620W polymorphism as the sole common risk variant for rheumatoid arthritis in the 1p13.2 region.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Instituto de Parasitologia y Biomedicina Lopez-Neyra, CSIC, Parque Tecnologico de Ciencias de la Salud, Granada, Spain. cebercoto@ipb.csic.es
authors.forename: Jose-Ezequiel
authors.initials: JE
authors.lastname: Martín
authors.forename: Behrooz Z
authors.initials: BZ
authors.lastname: Alizadeh
authors.forename: Miguel A
authors.initials: MA
authors.lastname: González-Gay
authors.forename: Alejandro
authors.initials: A
authors.lastname: Balsa
authors.forename: Dora
authors.initials: D
authors.lastname: Pascual-Salcedo
authors.forename: María F
authors.initials: MF
authors.lastname: González-Escribano
authors.forename: Luis
authors.initials: L
authors.lastname: Rodriguez-Rodriguez
authors.forename: Benjamín
authors.initials: B
authors.lastname: Fernández-Gutiérrez
authors.forename: Enrique
authors.initials: E
authors.lastname: Raya
authors.forename: Marieke J H
authors.initials: MJ
authors.lastname: Coenen
authors.forename: Piet
authors.initials: P
authors.lastname: van Riel
authors.forename: Timothy R D J
authors.initials: TR
authors.lastname: Radstake
authors.forename: Tore K
authors.initials: TK
authors.lastname: Kvien
authors.forename: Marte K
authors.initials: MK
authors.lastname: Viken
authors.forename: Benedicte A
authors.initials: BA
authors.lastname: Lie
authors.forename: Bobby P C
authors.initials: BP
authors.lastname: Koeleman
authors.forename: Javier
authors.initials: J
authors.lastname: Martín
mesh_terms: D001172:Arthritis, Rheumatoid / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D009426:Netherlands; D009664:Norway; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D012307:Risk Factors; D013030:Spain
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22