RT Journal Article T1 IL2RA/CD25 gene polymorphisms: uneven association with multiple sclerosis (MS) and type 1 diabetes (T1D). A1 Alcina, Antonio A1 Fedetz, María A1 Ndagire, Dorothy A1 Fernández, Oscar A1 Leyva, Laura A1 Guerrero, Miguel A1 Abad-Grau, María M A1 Arnal, Carmen A1 Delgado, Concepción A1 Lucas, Miguel A1 Izquierdo, Guillermo A1 Matesanz, Fuencisla K1 Alelos K1 Mapeo cromosómico K1 Diabetes mellitus tipo I K1 Predisposición genética a la enfermedad K1 Genotipo K1 Subunidad alfa del receptor de interleucina-2 K1 Desequilibrio de ligamiento K1 Esclerosis múltiple K1 Polimorfismo de Nucleótido Simple AB 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. PB Public Library of Science YR 2009 FD 2009-01-06 LK http://hdl.handle.net/10668/1288 UL http://hdl.handle.net/10668/1288 LA en NO 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 DS RISalud RD Apr 12, 2025