title: Lack of association of a functional single nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with susceptibility to biopsy-proven giant cell arteritis.
abstract: OBJECTIVE
  To assess the possible association between PTPN22 1858C(R)T polymorphism and susceptibility to giant cell arteritis (GCA) and to determine if this polymorphism is implicated in the clinical expression of this vasculitis.
  
  
  METHODS
  Ninety-six patients with biopsy-proven GCA and 229 ethnically matched controls from the Lugo region of Northwest Spain were studied using molecular methods. All individuals were of Spanish Caucasian origin. Genotyping of PTPN22 gene 1858C(R)T polymorphism was performed by real time polymerase chain reaction technology, using TaqMan 5' allelic discrimination assay.
  
  
  RESULTS
  No significant differences in allele or genotype frequencies for PTPN22 polymorphism were observed between patients with GCA and controls or when patients were stratified by presence of polymyalgia rheumatica (n = 38) or severe ischemic manifestations (n = 47).
  
  
  CONCLUSIONS
  Our results do not support potential involvement of PTPN22 gene polymorphism in the susceptibility or clinical expression of GCA.
authors.affiliation: Instituto de Parasitologia y Biomedicina Lopez-Neyra, CSIC, Granada, Spain.
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Gonzalez-Gay
authors.forename: Javier
authors.initials: J
authors.lastname: Oliver
authors.forename: Gisela
authors.initials: G
authors.lastname: Orozco
authors.forename: Carlos
authors.initials: C
authors.lastname: Garcia-Porrua
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Lopez-Nevot
authors.forename: Javier
authors.initials: J
authors.lastname: Martin
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D013700:Giant Cell Arteritis / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D012720:Severity of Illness Index
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases