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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.
Fuente: Annals of the Rheumatic Diseases, 2013, 72(7), 1233--1238
Editorial: BMJ Publishing Group
Fecha de publicación: 01/07/2013
Nº de páginas: 6
Tipo de publicación: Artículo de Revista
DOI: 10.1136/annrheumdis-2012-202357
ISSN: 0003-4967,1468-2060
Proyecto español: SAF2009-11110
Url de la publicación: https://doi.org/10.1136/annrheumdis-2012-202357
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DIAZ-GALLO, LINA-MARCELA
SIMEÓN AZNAR, CARMEN PILAR
BROEN, JASPER C.
ORTEGO CENTENO, NORBERTO
BERETTA, LORENZO
VONK, MADELON C.
CARREIRA, PATRICIA
VARGAS, SOFIA
ROMÁN-IVORRA, JOSÉ ANDRÉS
MIGUEL ANGEL GONZALEZ-GAY MANTECON
TOLOSA, CARLOS
LÓPEZ-LONGO, FRANCISCO JAVIER
ESPINOSA, GERARD
VICENTE, ESTHER F.
HESSELSTRAND, ROGER
RIEMEKASTEN, GABRIELA
WITTE, TORSTEN
DISTLER, JÖRG H. W.
VOSKUYL, ALEXANDRE E.
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