Cénit, María CarmenMárquez, AnaCordero-Coma, MiguelFonollosa, AlejandroLlorenç, VictorArtaraz, JosebaDíaz Valle, DavidBlanco, RicardoCañal, JoaquínSalom, DavidGarcía Serrano, José LuisRamón, Enrique deRio, María José delGorroño-Echebarría, Marina BegoñaMartín-Villa, José ManuelMolins, BlancaOrtego-Centeno, NorbertoMartín, Javier2014-04-232014-04-232013-03-20Cénit MC, Márquez A, Cordero-Coma M, Fonollosa A, Llorenç V, Artaraz J, et al. Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis Mol Vis. 2013; 19:638-43http://hdl.handle.net/10668/1590Journal Article;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.enAlelosDemografíaEstudios de casos y controlesEstudios de asociación genéticaFrecuencia génicaPredisposición genética a la enfermedadProteínas mutantesPolimorfismo de nucleótido únicoProteína tirosina fosfatasa no receptora de tipo 22Uveítis anteriorEspañaMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Amino Acid SubstitutionMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control StudiesMedical Subject Headings::Health Care::Population Characteristics::DemographyMedical Subject Headings::Check Tags::FemaleMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Gene FrequencyMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association StudiesMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to DiseaseMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Check Tags::MaleMedical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle AgedMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Mutant ProteinsMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single NucleotideMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Intracellular Signaling Peptides and Proteins::Protein Tyrosine Phosphatases, Non-Receptor::Protein Tyrosine Phosphatase, Non-Receptor Type 22Medical Subject Headings::Geographicals::Geographic Locations::Europe::SpainMedical Subject Headings::Diseases::Eye Diseases::Uveal Diseases::Uveitis::Panuveitis::Uveitis, AnteriorMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Allelesresearch article23559857open access1090-0535PMC3611931