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


Autoria(s): 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
Data(s)

06/08/2015

06/08/2015

15/05/2013

Resumo

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.

Journal Article;

Identificador

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

1471-2350 (Online)

PMC3658927

http://hdl.handle.net/10668/1946

23676143

10.1186/1471-2350-14-52

Idioma(s)

en

Publicador

BioMed Central

Relação

BMC medical genetics

http://www.biomedcentral.com/1471-2350/14/52

Direitos

Acceso abierto

Palavras-Chave #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 #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
Tipo

info:eu-repo/semantics/article

info:eu-repo/semantics/published

Artículo