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Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition.

dc.contributor.authorCénit, María Carmen
dc.contributor.authorMárquez, Ana
dc.contributor.authorCordero-Coma, Miguel
dc.contributor.authorFonollosa, Alejandro
dc.contributor.authorAdán, Alfredo
dc.contributor.authorMartínez-Berriotxoa, Agustín
dc.contributor.authorLlorenç, Victor
dc.contributor.authorDíaz Valle, David
dc.contributor.authorBlanco, Ricardo
dc.contributor.authorCañal, Joaquín
dc.contributor.authorDíaz-Llopis, Manuel
dc.contributor.authorGarcía Serrano, José Luis
dc.contributor.authorRamón, Enrique, de
dc.contributor.authorRio, María José, del
dc.contributor.authorGorroño-Echebarría, Marina
dc.contributor.authorMartín-Villa, José Manuel
dc.contributor.authorOrtego-Centeno, Norberto
dc.contributor.authorMartín, Javier
dc.contributor.authoraffiliation[Cénit,MC; Márquez,A; Martín,J] Instituto de Parasitología y Biomedicina López-Neyra, IPBLN, CSIC, Armilla, Granada, Spain. [Cordero-Coma,M] Ophthalmology Department, Hospital de León, Spain. [Fonollosa,A; Martínez-Berriotxoa,A] Internal Medicine Department, Hospital de Cruces, Bilbao, Spain. [Adán,A; Llorenç,V] Ophthalmology Department, Hospital Clinic, 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, Santander, Spain. [Díaz-Llopis,M] Ophthalmology Department, Hospital Universitario La Fe, Valencia, Spain. [García Serrano,JL] Ophthalmology Department, Hospital Clínico San Cecilio, Granada, Spain. [Ramón,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. [Ortego-Centeno,N] Internal Medicine Department, Hospital Clínico San Cecilio, Granada, Spain.es
dc.date.accessioned2015-08-06T06:32:28Z
dc.date.available2015-08-06T06:32:28Z
dc.date.issued2013-05-15
dc.descriptionJournal Article;es
dc.description.abstractBACKGROUND Recently, different genetic variants located within the IL2/IL21 genetic region as well as within both IL2RA and IL2RB loci have been associated to multiple autoimmune disorders. We aimed to investigate for the first time the potential influence of the IL2/IL21, IL2RA and IL2RB most associated polymorphisms with autoimmunity on the endogenous non-anterior uveitis genetic predisposition. METHODS A total of 196 patients with endogenous non-anterior uveitis and 760 healthy controls, all of them from Caucasian population, were included in the current study. The IL2/IL21 (rs2069762, rs6822844 and rs907715), IL2RA (2104286, rs11594656 and rs12722495) and IL2RB (rs743777) genetic variants were genotyped using TaqMan® allelic discrimination assays. RESULTS A statistically significant difference was found for the rs6822844 (IL2/IL21 region) minor allele frequency in the group of uveitis patients compared with controls (P(-value)=0.02, OR=0.64 CI 95%=0.43-0.94) although the significance was lost after multiple testing correction. Furthermore, no evidence of association with uveitis was detected for the analyzed genetic variants of the IL2RA or IL2RB loci. CONCLUSION Our results indicate that analyzed IL2/IL21, IL2RA and IL2RB polymorphisms do not seem to play a significant role on the non-anterior uveitis genetic predisposition although further studies are needed in order to clear up the influence of these loci on the non-anterior uveitis susceptibility.es
dc.description.versionYeses
dc.identifier.citationCénit MC, Márquez A, Cordero-Coma M, Fonollosa A, Adán A, Martínez-Berriotxoa A, et al. Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition. BMC Med. Genet. 2013; 14:52es
dc.identifier.doi10.1186/1471-2350-14-52
dc.identifier.essn1471-2350
dc.identifier.pmcPMC3658927
dc.identifier.pmid23676143
dc.identifier.urihttp://hdl.handle.net/10668/1946
dc.journal.titleBMC medical genetics
dc.language.isoen
dc.publisherBioMed Centrales
dc.relation.publisherversionhttp://www.biomedcentral.com/1471-2350/14/52es
dc.rights.accessRightsopen access
dc.subjectIL2es
dc.subjectIL21es
dc.subjectIL2RAes
dc.subjectPolymorphismses
dc.subjectAssociation studyes
dc.subjectGenetic susceptibilityes
dc.subjectPredisposición genética a la enfermedades
dc.subjectVariación genéticaes
dc.subjectGenotipoes
dc.subjectInterleucina-2es
dc.subjectSubunidad alfa del receptor de interleucina-2es
dc.subjectPolymorphism, Genetices
dc.subjectModelos estadísticoses
dc.subjectPolimorfismo de nucleótido simplees
dc.subjectUveítises
dc.subject.meshMedical Subject Headings::Named Groups::Persons::Age Groups::Adult::Agedes
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleleses
dc.subject.meshMedical Subject Headings::Health Care::Health Care Quality, Access, and Evaluation::Quality of Health Care::Health Care Evaluation Mechanisms::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studieses
dc.subject.meshMedical Subject Headings::Check Tags::Femalees
dc.subject.meshMedical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Diseasees
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variationes
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotypees
dc.subject.meshMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humanses
dc.subject.meshMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Cytokines::Interleukins::Interleukin-2es
dc.subject.meshMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Receptors, Cell Surface::Receptors, Immunologic::Receptors, Cytokine::Receptors, Interleukin::Receptors, Interleukin-2::Interleukin-2 Receptor alpha Subunites
dc.subject.meshMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Receptors, Cell Surface::Receptors, Immunologic::Receptors, Cytokine::Receptors, Interleukin::Receptors, Interleukin-2::Interleukin-2 Receptor beta Subunites
dc.subject.meshMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Cytokines::Interleukinses
dc.subject.meshMedical Subject Headings::Check Tags::Malees
dc.subject.meshMedical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Agedes
dc.subject.meshMedical Subject Headings::Health Care::Health Care Quality, Access, and Evaluation::Quality of Health Care::Health Care Evaluation Mechanisms::Statistics as Topic::Models, Statisticales
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetices
dc.subject.meshPolymorphism, Single Nucleotidees
dc.subject.meshMedical Subject Headings::Diseases::Eye Diseases::Uveal Diseases::Uveitises
dc.subject.meshMedical Subject Headings::Named Groups::Persons::Age Groups::Adultes
dc.titleEvaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition.es
dc.typeresearch article
dc.type.hasVersionVoR
dspace.entity.typePublication

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