title: IL2RA/CD25 gene polymorphisms: uneven association with multiple sclerosis (MS) and type 1 diabetes (T1D).
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.
  
  
  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.
authors.affiliation: Instituto de Parasitología y Biomedicina López Neyra, Consejo Superior de Investigaciones Científicas, Granada, Spain.
authors.forename: Antonio
authors.initials: A
authors.lastname: Alcina
authors.forename: María
authors.initials: M
authors.lastname: Fedetz
authors.forename: Dorothy
authors.initials: D
authors.lastname: Ndagire
authors.forename: Oscar
authors.initials: O
authors.lastname: Fernández
authors.forename: Laura
authors.initials: L
authors.lastname: Leyva
authors.forename: Miguel
authors.initials: M
authors.lastname: Guerrero
authors.forename: María M
authors.initials: MM
authors.lastname: Abad-Grau
authors.forename: Carmen
authors.initials: C
authors.lastname: Arnal
authors.forename: Concepción
authors.initials: C
authors.lastname: Delgado
authors.forename: Miguel
authors.initials: M
authors.lastname: Lucas
authors.forename: Guillermo
authors.initials: G
authors.lastname: Izquierdo
authors.forename: Fuencisla
authors.initials: F
authors.lastname: Matesanz
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D053645:Interleukin-2 Receptor alpha Subunit / Q000235:genetics*; D015810:Linkage Disequilibrium; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D053645:Interleukin-2 Receptor alpha Subunit