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Title: IL2RA/CD25 gene polymorphisms: uneven association with multiple sclerosis (MS) and type 1 diabetes (T1D).
Authors: Alcina, Antonio
Fedetz, María
Ndagire, Dorothy
Fernández, Oscar
Leyva, Laura
Guerrero, Miguel
Abad-Grau, María M
Arnal, Carmen
Delgado, Concepción
Lucas, Miguel
Izquierdo, Guillermo
Matesanz, Fuencisla
metadata.dc.contributor.authoraffiliation: [Alcina,A; Fedetz,M; Ndagire,D; Matesanz,F] Instituto de Parasitología y Biomedicina López Neyra, Consejo Superior de Investigaciones Científicas, Granada, Spain. [Fernández,O; Leyva,L; Guerrero,M] Servicio de Neurología, Instituto de Neurociencias Clínicas, Hospital Carlos Haya, Málaga, Spain. [Abad-Grau;MM;] Departamento de Lenguajes y Sistemas Informáticos, Universidad de Granada, Granada, Spain. [Arnal,C] Servicio de Neurología, Hospital Virgen de las Nieves, Granada, Spain. [Delgado,C] Centro Regional de Transfusión Sanguínea Granada-Almería, Granada, Spain. [Lucas,M] Servicio de Biología Molecular, Hospital Virgen Macarena, Sevilla, Spain. [Izquierdo,G] Unidad de Esclerosis Múltiple, Hospital Virgen Macarena, Sevilla, Spain.
Keywords: Alelos;Mapeo cromosómico;Diabetes mellitus tipo I;Predisposición genética a la enfermedad;Genotipo;Subunidad alfa del receptor de interleucina-2;Desequilibrio de ligamiento;Esclerosis múltiple;Polimorfismo de Nucleótido Simple
metadata.dc.subject.mesh: Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Chromosome Mapping
Medical Subject Headings::Diseases::Endocrine System Diseases::Diabetes Mellitus::Diabetes Mellitus, Type 1
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease
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::Biological Factors::Biological Markers::Antigens, Differentiation::Antigens, CD::Interleukin-2 Receptor alpha Subunit
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Linkage::Linkage Disequilibrium
Medical Subject Headings::Diseases::Immune System Diseases::Autoimmune Diseases::Autoimmune Diseases of the Nervous System::Demyelinating Autoimmune Diseases, CNS::Multiple Sclerosis
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Young Adult
Issue Date: 6-Jan-2009
Publisher: Public Library of Science
Citation: Alcina A, Fedetz M, Ndagire D, Fernández O, Leyva L, Guerrero M, et al. IL2RA/CD25 gene polymorphisms: uneven association with multiple sclerosis (MS) and type 1 diabetes (T1D). PLoS ONE. 2009; 4(1):e4137
Abstract: BACKGROUND: IL-2 receptor (IL2R) alpha is the specific component of the high affinity IL2R system involved in the immune response and in the control of autoimmunity. METHODS AND RESULTS: Here we perform a replication and fine mapping of the IL2RA gene region analyzing 3 SNPs previously associated with multiple sclerosis (MS) and 5 SNPs associated with type 1 diabetes (T1D) in a collection of 798 MS patients and 927 matched Caucasian controls from the south of Spain. We observed association with MS in 6 of 8 SNPs. The rs1570538, at the 3'- UTR extreme of the gene, previously reported to have a weak association with MS, is replicated here (P = 0.032). The most associated T1D SNP (rs41295061) was not associated with MS in the present study. However, the rs35285258, belonging to another independent group of SNPs associated with T1D, showed the maximal association in this study but different risk allele. We replicated the association of only one (rs2104286) of the two IL2RA SNPs identified in the recently performed genome-wide association study of MS. CONCLUSIONS: These findings confirm and extend the association of this gene with MS and reveal a genetic heterogeneity of the associated polymorphisms and risk alleles between MS and T1D suggesting different immunopathological roles of IL2RA in these two diseases.
metadata.dc.identifier.doi: 10.1371/journal.pone.0004137
ISSN: 1932-6203 (Online)
Appears in Collections:01- Artículos - Biobanco del Sistema Sanitario Público de Andalucía
01- Artículos - Hospital Regional de Málaga
01- Artículos - Hospital Virgen de las Nieves

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