Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/119050
Title: | Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility |
Author: | Diaz-Gallo, Lina-Marcela Simeón Aznar, Carmen Pilar Broen, Jasper C. Ortego Centeno, Norberto Beretta, Lorenzo Vonk, Madelon C. Carreira, Patricia Vargas, Sofía Román-Ivorra, José Andrés González-Gay, Miguel A. Tolosa Vilella, Carles López Longo, Francisco J. Espinosa Garriga, Gerard Vicente, Esther F. Hesselstrand, Roger Riemekasten, Gabriela Witte, Torsten Distler, Jörg H.V. Voskuyl, Alexandre E. Schuerwegh, Annemie J. Shiels, Paul G. Nordin, Annika Padyukov, Leonid Hoffmann-Vold, Anna-Maria Scorza, Raffaella Lunardi, Claudio Airó, Paolo van Laar, Jacob M. Hunzelmann, Nicolas Gathof, Birgit S. Kreuter, Alexander Herrick, Ariane L. Worthington, Jane Denton, Christopher P. Zhou, Xiaodong Arnett, Frank C. Fonseca, Carmen Koeleman, Bobby P. C. Narváez García, Francisco Javier Spanish Scleroderma Study Group (SSSG) |
Keywords: | Esclerodèrmia Malalties autoimmunitàries Genètica Scleroderma (Disease) Autoimmune diseases Genetics |
Issue Date: | Jul-2013 |
Publisher: | BMJ Publishing Group |
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 (pc=6.6E-4 and pc=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 (pc=1.7E-03 and pc=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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1136/annrheumdis-2012-202357 |
It is part of: | Annals of the Rheumatic Diseases, 2013, vol. 72, num. 7, p. 1233-1238 |
URI: | http://hdl.handle.net/2445/119050 |
Related resource: | https://doi.org/10.1136/annrheumdis-2012-202357 |
ISSN: | 0003-4967 |
Appears in Collections: | Articles publicats en revistes (Medicina) Articles publicats en revistes (Ciències Clíniques) |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
663769.pdf | 115.36 kB | Adobe PDF | View/Open |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.