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Please use this identifier to cite or link to this item: http://hdl.handle.net/10481/31004

Title: IL2RA/CD25 Gene Polymorphisms: Uneven Association with Multiple Sclerosis (MS) and Type 1 Diabetes (T1D)
Authors: Alcina Madueño, Antonio
Fedetz, María
Ndagire, Dorothy
Fernández, Leyva
Guerrero, Miguel
Abad-Grau, María M.
Arnal, Carmen
Delgado, Concepción
Lucas, Miguel
Izquierdo, Guillermo
Matesanz, Fuencisla
Issue Date: 2009
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.
Sponsorship: Financial support for the study was provided by the Ministerio de Educación y Ciencia (grants PN-SAF2006-02023 and TIN2007-67418-C03-03) and Junta de Andalucía (P07-CVI-02551) to A. Alcina and Servicio Andaluz de Salud de la Junta de Andalucía (grant PI0168/2007) to F. Matesanz. María Fedetz is a holder of a fellowship from Fundación IMABIS. Dorothy Ndagire is a holder of AECI-Ministerio de Asuntos Exteriores fellowship.
Publisher: Public Library of Science (PLOS)
Keywords: Alleles
Autoimmune diseases
Gene regulation
Linkage disequilibrium
Multiple sclerosis
Systemic lupus erythematosus
Type 1 diabetes
Variant genotypes
URI: http://hdl.handle.net/10481/31004
ISSN: 1932-6203
Rights : Creative Commons Attribution-NonCommercial-NoDerivs 3.0 License
Citation: Alcina, A.; et al. IL2RA/CD25 Gene Polymorphisms: Uneven Association with Multiple Sclerosis (MS) and Type 1 Diabetes (T1D). Plos One, 4(1): e4137 (2009). [http://hdl.handle.net/10481/31004]
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