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Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility

Diaz-Gallo, Lina-Marcela; Simeon, Carmen P.; Broen, Jasper C.; Ortego-Centeno, Norberto; Beretta, Lorenzo; Vonk, Madelon C.; Carreira, Patricia E.; Vargas, Sofia; Andres Roman-Ivorra, Jose and Gonzalez-Gay, Miguel A., et al. (2013) In Annals of the Rheumatic Diseases 72(7). p.1233-1238
Abstract
Objective The interleukin 2 (IL-2) and interleukin 21 (IL-21) locus at chromosome 4q27 has been associated with several autoimmune diseases, and both genes are related to immune system functions. The aim of this study was to evaluate the role of the IL-2/IL-21 locus in systemic sclerosis (SSc). Patients and methods The case control study included 4493 SSc Caucasian patients and 5856 healthy controls from eight Caucasian populations (Spain, Germany, The Netherlands, USA, Italy, Sweden, UK and Norway). Four single nucleotide polymorphisms (rs2069762, rs6822844, rs6835457 and rs907715) were genotyped using TaqMan allelic discrimination assays. Results We observed evidence of association of the rs6822844 and rs907715 variants with global SSc... (More)
Objective The interleukin 2 (IL-2) and interleukin 21 (IL-21) locus at chromosome 4q27 has been associated with several autoimmune diseases, and both genes are related to immune system functions. The aim of this study was to evaluate the role of the IL-2/IL-21 locus in systemic sclerosis (SSc). Patients and methods The case control study included 4493 SSc Caucasian patients and 5856 healthy controls from eight Caucasian populations (Spain, Germany, The Netherlands, USA, Italy, Sweden, UK and Norway). Four single nucleotide polymorphisms (rs2069762, rs6822844, rs6835457 and rs907715) were genotyped using TaqMan allelic discrimination assays. Results We observed evidence of association of the rs6822844 and rs907715 variants with global SSc (p(c)=6.6E-4 and p(c)=7.2E-3, respectively). Similar statistically significant associations were observed for the limited cutaneous form of the disease. The conditional regression analysis suggested that the most likely genetic variation responsible for the association was the rs6822844 polymorphism. Consistently, the rs2069762A-rs6822844T-rs6835457G-rs907715T allelic combination showed evidence of association with SSc and limited cutaneous SSc subtype (p(c)=1.7E-03 and p(c)=8E-4, respectively). Conclusions These results suggested that the IL-2/IL-21 locus influences the genetic susceptibility to SSc. Moreover, this study provided further support for the IL-2/IL-21 locus as a common genetic factor in autoimmune diseases. (Less)
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Annals of the Rheumatic Diseases
volume
72
issue
7
pages
1233 - 1238
publisher
British Medical Association
external identifiers
  • wos:000319737000027
  • scopus:84878435061
ISSN
1468-2060
DOI
10.1136/annrheumdis-2012-202357
language
English
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yes
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648071ab-ee27-483f-a4e3-1659d9edd20f (old id 3920878)
date added to LUP
2013-08-01 07:33:38
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2019-04-10 02:00:43
@article{648071ab-ee27-483f-a4e3-1659d9edd20f,
  abstract     = {Objective The interleukin 2 (IL-2) and interleukin 21 (IL-21) locus at chromosome 4q27 has been associated with several autoimmune diseases, and both genes are related to immune system functions. The aim of this study was to evaluate the role of the IL-2/IL-21 locus in systemic sclerosis (SSc). Patients and methods The case control study included 4493 SSc Caucasian patients and 5856 healthy controls from eight Caucasian populations (Spain, Germany, The Netherlands, USA, Italy, Sweden, UK and Norway). Four single nucleotide polymorphisms (rs2069762, rs6822844, rs6835457 and rs907715) were genotyped using TaqMan allelic discrimination assays. Results We observed evidence of association of the rs6822844 and rs907715 variants with global SSc (p(c)=6.6E-4 and p(c)=7.2E-3, respectively). Similar statistically significant associations were observed for the limited cutaneous form of the disease. The conditional regression analysis suggested that the most likely genetic variation responsible for the association was the rs6822844 polymorphism. Consistently, the rs2069762A-rs6822844T-rs6835457G-rs907715T allelic combination showed evidence of association with SSc and limited cutaneous SSc subtype (p(c)=1.7E-03 and p(c)=8E-4, respectively). Conclusions These results suggested that the IL-2/IL-21 locus influences the genetic susceptibility to SSc. Moreover, this study provided further support for the IL-2/IL-21 locus as a common genetic factor in autoimmune diseases.},
  author       = {Diaz-Gallo, Lina-Marcela and Simeon, Carmen P. and Broen, Jasper C. and Ortego-Centeno, Norberto and Beretta, Lorenzo and Vonk, Madelon C. and Carreira, Patricia E. and Vargas, Sofia and Andres Roman-Ivorra, Jose and Gonzalez-Gay, Miguel A. and Tolosa, Carlos and Javier Lopez-Longo, Francisco and Espinosa, Gerard and Vicente, Esther F. and Hesselstrand, Roger and Riemekasten, Gabriela and Witte, Torsten and Distler, Joerg H. W. and Voskuyl, Alexandre E. and Schuerwegh, Annemie J. and Shiels, Paul G. and Nordin, Annika and Padyukov, Leonid and Hoffmann-Vold, Anna-Maria and Scorza, Raffaella and Lunardi, Claudio and Airo, Paolo and van Laar, Jacob M. and Hunzelmann, Nicolas and Gathof, Birgit S. and Kreuter, Alexander and Herrick, Ariane and Worthington, Jane and Denton, Christopher P. and Zhou, Xiaodong and Arnett, Frank C. and Fonseca, Carmen and Koeleman, Bobby P. C. and Assasi, Shervin and Radstake, Timothy R. D. J. and Mayes, Maureen D. and Martin, Javier},
  issn         = {1468-2060},
  language     = {eng},
  number       = {7},
  pages        = {1233--1238},
  publisher    = {British Medical Association},
  series       = {Annals of the Rheumatic Diseases},
  title        = {Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility},
  url          = {http://dx.doi.org/10.1136/annrheumdis-2012-202357},
  volume       = {72},
  year         = {2013},
}