Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/1946
Título : Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition.
Autor : Cénit, María Carmen
Márquez, Ana
Cordero-Coma, Miguel
Fonollosa, Alejandro
Adán, Alfredo
Martínez-Berriotxoa, Agustín
Llorenç, Victor
Díaz Valle, David
Blanco, Ricardo
Cañal, Joaquín
Díaz-Llopis, Manuel
García Serrano, José Luis
Ramón, Enrique, de
Rio, María José, del
Gorroño-Echebarría, Marina
Martín-Villa, José Manuel
Ortego-Centeno, Norberto
Martín, Javier
Filiación: [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.
Palabras clave : IL2
IL21
IL2RA
Polymorphisms
Association study
Genetic susceptibility
Predisposición genética a la enfermedad
Variación genética
Genotipo
Interleucina-2
Subunidad alfa del receptor de interleucina-2
Polymorphism, Genetic
Modelos estadísticos
Polimorfismo de nucleótido simple
Uveítis
MeSH: Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Aged
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles
Medical 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 Studies
Medical Subject Headings::Check Tags::Female
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Cytokines::Interleukins::Interleukin-2
Medical 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 Subunit
Medical 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 Subunit
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Cytokines::Interleukins
Medical Subject Headings::Check Tags::Male
Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Aged
Medical Subject Headings::Health Care::Health Care Quality, Access, and Evaluation::Quality of Health Care::Health Care Evaluation Mechanisms::Statistics as Topic::Models, Statistical
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic
Polymorphism, Single Nucleotide
Medical Subject Headings::Diseases::Eye Diseases::Uveal Diseases::Uveitis
Medical Subject Headings::Named Groups::Persons::Age Groups::Adult
Fecha de publicación : 15-May-2013
Editorial : BioMed Central
Cita Bibliográfica: Cénit 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; 14:52
Abstract: BACKGROUND 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.
Descripción : Journal Article;
URI: http://hdl.handle.net/10668/1946
Versión del editor : http://www.biomedcentral.com/1471-2350/14/52
DOI: 10.1186/1471-2350-14-52
ISSN : 1471-2350 (Online)
Appears in Collections:01- Artículos - Hospital Regional de Málaga
01- Artículos - Hospital San Cecilio

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