title: Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis.
abstract: OBJECTIVE
  Endogenous uveitis is a major cause of visual loss mediated by the immune system. The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene encodes a lymphoid-specific phosphatase that plays a key role in T-cell receptor (TCR) signaling. Two independent functional missense single nucleotide polymorphisms (SNPs) located within the PTPN22 gene (R263Q and R620W) have been associated with different autoimmune disorders. We aimed to analyze for the first time the influence of these PTPN22 genetic variants on endogenous non-anterior uveitis susceptibility.
  
  
  METHODS
  We performed a case-control study of 217 patients with endogenous non-anterior uveitis and 718 healthy controls from a Spanish population. The PTPN22 polymorphisms (rs33996649 and rs2476601) were genotyped using TaqMan allelic discrimination assays. The allele, genotype, carriers, and allelic combination frequencies were compared between cases and controls with χ(2) analysis or Fisher's exact test.
  
  
  RESULTS
  Our results showed no influence of the studied SNPs in the global susceptibility analysis (rs33996649: allelic P- value=0.92, odds ratio=0.97, 95% confidence interval=0.54-1.75; rs2476601: allelic P- value=0.86, odds ratio=1.04, 95% confidence interval=0.68-1.59). Similarly, the allelic combination analysis did not provide additional information.
  
  
  CONCLUSIONS
  Our results suggest that the studied polymorphisms of the PTPN22 gene do not play an important role in the pathophysiology of endogenous non-anterior uveitis.
authors.affiliation: Instituto de Parasitología y Biomedicina López-Neyra, IPBLN, CSIC, Granada, Spain. mccenit@ipb.csic.es
authors.forename: María Carmen
authors.initials: MC
authors.lastname: Cénit
authors.forename: Ana
authors.initials: A
authors.lastname: Márquez
authors.forename: Miguel
authors.initials: M
authors.lastname: Cordero-Coma
authors.forename: Alejandro
authors.initials: A
authors.lastname: Fonollosa
authors.forename: Victor
authors.initials: V
authors.lastname: Llorenç
authors.forename: Joseba
authors.initials: J
authors.lastname: Artaraz
authors.forename: David
authors.initials: D
authors.lastname: Díaz Valle
authors.forename: Ricardo
authors.initials: R
authors.lastname: Blanco
authors.forename: Joaquín
authors.initials: J
authors.lastname: Cañal
authors.forename: David
authors.initials: D
authors.lastname: Salom
authors.forename: José Luis
authors.initials: JL
authors.lastname: García Serrano
authors.forename: Enrique
authors.initials: E
authors.lastname: de Ramón
authors.forename: María
authors.initials: M
authors.lastname: José del Rio
authors.forename: Marina Begoña
authors.initials: MB
authors.lastname: Gorroño-Echebarría
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Martín-Villa
authors.forename: Blanca
authors.initials: B
authors.lastname: Molins
authors.forename: Norberto
authors.initials: N
authors.lastname: Ortego-Centeno
authors.forename: Javier
authors.initials: J
authors.lastname: Martín
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics*; D016022:Case-Control Studies; D003710:Demography; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D050505:Mutant Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D013030:Spain; D014606:Uveitis, Anterior / Q000201:enzymology* / Q000235:genetics*
chemical_list: D050505:Mutant Proteins; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22
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