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Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk

AuthorsCavanillas, M. L.; Alcina, Antonio; Núñez, Concepción; Heras, Virginia de las; Fernández-Arquero, M.; Bartolomé, Manuel; Concha, Emilio G. de la; Fernández, Óscar; Arroyo, R.; Matesanz, F.; Urcelay, Elena
Issue Date2010
PublisherNature Publishing Group
CitationEuropean Journal of Human Genetics 18(7): 794- 799 (2010)
AbstractInterleukin (IL)-2/IL-2R signalling promotes proliferation and survival of activated T cells and has an essential non-redundant role in the production of regulatory T cells. Associations with different autoimmune diseases of polymorphisms in a linkage disequilibrium block in which the IL2/IL21 genes map (4q27), and also in genes encoding the IL2RA and IL2RB subunits (located in 10p15 and 22q13, respectively), were identified through genome-wide studies. Polymorphisms in these three genes were studied in 430 multiple sclerosis (MS) patients and in 550 ethnically matched controls from Madrid (Spain). Replication and meta-analysis with results from an independent cohort of 771 MS patients and 759 controls from Andalucía (Spain) confirmed the association of polymorphisms in the IL2RA gene (PMantel-Haenszel, odds ratio (OR) M-H (95% confidence interval, CI) for rs2104286: 0.0001, 0.75 (0.65-0.87); for rs11594656/rs35285258: 0.004, 1.19 (1.06-1.34); for rs41295061: 0.03, 0.77 (0.60-0.98)); showed a trend for association of the IL2/IL21 rs6822844 (P M-H 0.07, OR M-H (95% CI)0.86 (0.73-1.01)), but did not corroborate the association for IL2RB. Regression analyses of the combined Spanish cohort revealed the independence of two IL2RA association signals: rs2104286 and rs11594656/rs35285258. The relevant role of the IL2RA gene on MS susceptibility adds support to its common effect on autoimmune risk and the suggestive association of IL2/IL21 warrants further investigation. © 2010 Macmillan Publishers Limited All rights reserved.
Identifiersdoi: 10.1038/ejhg.2010.15
issn: 1018-4813
e-issn: 1476-5438
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