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The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis

(2012) GENES AND IMMUNITY. 13(2). p.191-196
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Abstract
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.
Keywords
IL2RA, rs11594656, anti-centromere auto-antibody, systemic sclerosis, SCLERODERMA, INTERLEUKIN-2-RECEPTOR, rs2104286, rs12722495, GENOME-WIDE ASSOCIATION, REGULATORY T-CELLS, PATHOGENESIS, CLASSIFICATION, BETA

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Citation

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MLA
Martin, Jose-Ezequiel et al. “The Autoimmune Disease-associated IL2RA Locus Is Involved in the Clinical Manifestations of Systemic Sclerosis.” GENES AND IMMUNITY 13.2 (2012): 191–196. Print.
APA
Martin, J.-E., Carmona, F. D., Broen, J. C., Simeon, C. P., Vonk, M. C., Carreira, P., Ríos-Fernández, R., et al. (2012). The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis. GENES AND IMMUNITY, 13(2), 191–196.
Chicago author-date
Martin, Jose-Ezequiel, F David Carmona, Jasper CA Broen, Carmen P Simeon, Madelon C Vonk, Patricia Carreira, Raquel Ríos-Fernández, et al. 2012. “The Autoimmune Disease-associated IL2RA Locus Is Involved in the Clinical Manifestations of Systemic Sclerosis.” Genes and Immunity 13 (2): 191–196.
Chicago author-date (all authors)
Martin, Jose-Ezequiel, F David Carmona, Jasper CA Broen, Carmen P Simeon, Madelon C Vonk, Patricia Carreira, Raquel Ríos-Fernández, Gerard Espinosa, Esther Vicente-Rabaneda, Carlos Tolosa, Francisco J Garcia-Hernandez, Iván Castellvi, Vicente Fonollosa, Miguel A González-Gay, Luis Sáez-Comet, Rosa Garcia Portales, Paloma Garcia de la Peña, Mónica Fernandez-Castro, Bernardino Diaz, Lina Martinez-Estupiñan, M Coenen, Alexandre E Voskuyl, Annemie J Schuerwegh, Marie Vanthuyne, F Houssiau, Vanessa Smith, Filip De Keyser, Ellen De Langhe, Gabriela Riemekasten, Torsten Witte, Nicolas Hunzelmann, Alexander Kreuter, Øyvind Palm, Meng May Chee, Jacob M van Laar, Christopher Denton, Arianne Herrick, Jane Worthington, Bobby PC Koeleman, Timothy RDJ Radstake, Carmen Fonseca, and Javier Martií. 2012. “The Autoimmune Disease-associated IL2RA Locus Is Involved in the Clinical Manifestations of Systemic Sclerosis.” Genes and Immunity 13 (2): 191–196.
Vancouver
1.
Martin J-E, Carmona FD, Broen JC, Simeon CP, Vonk MC, Carreira P, et al. The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis. GENES AND IMMUNITY. 2012;13(2):191–6.
IEEE
[1]
J.-E. Martin et al., “The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis,” GENES AND IMMUNITY, vol. 13, no. 2, pp. 191–196, 2012.
@article{3094199,
  abstract     = {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.},
  author       = {Martin, Jose-Ezequiel and Carmona, F David and Broen, Jasper CA and Simeon, Carmen P and Vonk, Madelon C and Carreira, Patricia and Ríos-Fernández, Raquel and Espinosa, Gerard and Vicente-Rabaneda, Esther and Tolosa, Carlos and Garcia-Hernandez, Francisco J and Castellvi, Iván and Fonollosa, Vicente and González-Gay, Miguel A and Sáez-Comet, Luis and Garcia Portales, Rosa and Garcia de la Peña, Paloma and Fernandez-Castro, Mónica and Diaz, Bernardino and Martinez-Estupiñan, Lina and Coenen, M and Voskuyl, Alexandre E and Schuerwegh, Annemie J and Vanthuyne, Marie and Houssiau, F and Smith, Vanessa and De Keyser, Filip and De Langhe, Ellen and Riemekasten, Gabriela and Witte, Torsten and Hunzelmann, Nicolas and Kreuter, Alexander and Palm, Øyvind and Chee, Meng May and van Laar, Jacob M and Denton, Christopher and Herrick, Arianne and Worthington, Jane and Koeleman, Bobby PC and Radstake, Timothy RDJ and Fonseca, Carmen and Martií, Javier},
  issn         = {1466-4879},
  journal      = {GENES AND IMMUNITY},
  keywords     = {IL2RA,rs11594656,anti-centromere auto-antibody,systemic sclerosis,SCLERODERMA,INTERLEUKIN-2-RECEPTOR,rs2104286,rs12722495,GENOME-WIDE ASSOCIATION,REGULATORY T-CELLS,PATHOGENESIS,CLASSIFICATION,BETA},
  language     = {eng},
  number       = {2},
  pages        = {191--196},
  title        = {The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis},
  url          = {http://dx.doi.org/10.1038/gene.2011.72},
  volume       = {13},
  year         = {2012},
}

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