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Lookup NU author(s): Professor Jaap Van Laar
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Regulatory T cells (T-regs) are crucial in the maintenance of the immune tolerance and seem to have an important role in systemic sclerosis (SSc). The interleukin 2 receptor alpha (IL2RA) is an important T-reg marker, and polymorphisms of IL2RA gene are associated with a number of autoimmune diseases. Therefore, we aimed to investigate for the first time the association of the IL2RA locus in SSc. For this purpose, a total of 3023 SSc patients and 2735 matched healthy controls, from six European Caucasian cohorts, were genotyped for the IL2RA gene variants rs11594656, rs2104286 and rs12722495 using the TaqMan allelic discrimination technology. The overall meta-analysis reached statistical significance when the three polymorphisms were tested for association with SSc, the limited subtype (lcSSc) and anti-centromere auto-antibodies (ACAs). However, no significant P-values were obtained when the ACA-positive patients were removed from the SSc and lcSSc groups, suggesting that these associations rely on ACA positivity. The strongest association signal with ACA production was detected for rs2104286 (P-FDR 2.07 x 10(-4,) odds ratio = 1.30 (1.14-1.47)). The associations of rs11594656 and rs12722495 were lost after conditioning to rs2104286, and allelic combination tests did not evidence a combined effect, indicating that rs2104286 best described the association between IL2RA and ACA presence in SSc. Genes and Immunity (2012) 13, 191-196; doi:10.1038/gene.2011.72; published online 20 October 2011
Author(s): Martin JE, Carmona FD, Broen JCA, Simeon CP, Vonk MC, Carreira P, Rios-Fernandez R, Espinosa G, Vicente-Rabaneda E, Tolosa C, Garcia-Hernandez FJ, Castellvi I, Fonollosa V, Gonzalez-Gay MA, Saez-Comet L, Portales RG, de la Pena PG, Fernandez-Castro M, Diaz B, Martinez-Estupinan L, Coenen M, Voskuyl AE, Schuerwegh AJ, Vanthuyne M, Houssiau F, Smith V, de Keyser F, De Langhe E, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Palm O, Chee MM, van Laar JM, Denton C, Herrick A, Worthington J, Koeleman BPC, Radstake TRDJ, Fonseca C, Martin J, Spanish Scleroderma Grp
Publication type: Article
Publication status: Published
Journal: Genes and Immunity
Year: 2012
Volume: 13
Issue: 2
Pages: 191-196
Print publication date: 01/02/2012
ISSN (print): 1466-4879
ISSN (electronic): 1476-5470
Publisher: Nature Publishing Group
URL: http://dx.doi.org/10.1038/gene.2011.72
DOI: 10.1038/gene.2011.72
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