Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/1590
Título : Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis.
Autor : Cénit, María Carmen
Márquez, Ana
Cordero-Coma, Miguel
Fonollosa, Alejandro
Llorenç, Victor
Artaraz, Joseba
Díaz Valle, David
Blanco, Ricardo
Cañal, Joaquín
Salom, David
García Serrano, José Luis
Ramón, Enrique de
Rio, María José del
Gorroño-Echebarría, Marina Begoña
Martín-Villa, José Manuel
Molins, Blanca
Ortego-Centeno, Norberto
Martín, Javier
Filiación: [Cénit,MC; Márquez,A; Martín,J] Instituto de Parasitología y Biomedicina López-Neyra, IPBLN, CSIC, Granada, Spain. [Cordero-Coma,M] Ophthalmology Department, Hospital de León, León, Spain. [Fonollosa,A; Artaraz,J] Ophthalmology Department, Hospital de Cruces, Bilbao, Spain. [Llorenç,V] Ophthalmology Department, Hospital Clínic, Barcelona, Spain. [Díaz Valle, D] Ophthalmology Department, Hospital Clínico San Carlos, Madrid, Spain. [Blanco,R] Rheumatology Department, Hospital Marqués de Valdecilla, IFIMAV, Santander, Spain. [Cañal,J] Ophthalmology Department, Hospital Marqués de Valdecilla, IFIMAV, Santander, Spain. [Salom,D] Ophthalmology Department, Hospital Universitario La Fe, Valencia, Spain. [García Serrano,JL] Ophthalmology Department, Hospital Clínico San Cecilio, Granada, Spain. [Ramon,E de] Internal Medicine Department, Hospital Carlos Haya, Málaga, Spain. [Rio,MJ del] Ophthalmology Department, Hospital Carlos Haya, Málaga, Spain. [Gorroño-Echebarría,MB] Ophthalmology Department, Hospital Universitario Principe de Asturias, Alcalá de Henares, Spain. [Martín-Villa,JM] Immunology Department, Facultad de Medicina, Universidad Complutense de Madrid, Spain. [Molins,B] Instituto de Investigaciones Biomédicas, IDIBAPS, Hospital Clinic, Barcelona, Spain. [Ortego-Centeno,N] Internal Medicine Department, Hospital Clínico San Cecilio, Granada, Spain.
Palabras clave : Alelos
Demografía
Estudios de casos y controles
Estudios de asociación genética
Frecuencia génica
Predisposición genética a la enfermedad
Proteínas mutantes
Polimorfismo de nucleótido único
Proteína tirosina fosfatasa no receptora de tipo 22
Uveítis anterior
España
MeSH: Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Amino Acid Substitution
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies
Medical Subject Headings::Health Care::Population Characteristics::Demography
Medical Subject Headings::Check Tags::Female
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Gene Frequency
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Check Tags::Male
Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Aged
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Mutant Proteins
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
Medical 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 22
Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain
Medical Subject Headings::Diseases::Eye Diseases::Uveal Diseases::Uveitis::Panuveitis::Uveitis, Anterior
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles
Fecha de publicación : 20-Mar-2013
Editorial : Molecular Vision
Cita Bibliográfica: Cénit 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; 19:638-43
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.
Descripción : Journal Article;
URI: http://hdl.handle.net/10668/1590
Versión del editor : http://www.molvis.org/molvis/v19/638/
ISSN : 1090-0535 (Online)
Appears in Collections:01- Artículos - Hospital Regional de Málaga
01- Artículos - Hospital San Cecilio

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