RT Journal Article
SR Electronic
T1 Implication of <em>IL-2/IL-21</em> region in systemic sclerosis genetic susceptibility
JF Annals of the Rheumatic Diseases
JO Ann Rheum Dis
FD BMJ Publishing Group Ltd and European League Against Rheumatism
SP 1233
OP 1238
DO 10.1136/annrheumdis-2012-202357
VO 72
IS 7
A1 Diaz-Gallo, Lina-Marcela
A1 Simeon, Carmen P
A1 Broen, Jasper C
A1 Ortego-Centeno, Norberto
A1 Beretta, Lorenzo
A1 Vonk, Madelon C
A1 Carreira, Patricia E
A1 Vargas, Sofia
A1 Román-Ivorra, José Andrés
A1 González-Gay, Miguel A
A1 Tolosa, Carlos
A1 López-Longo, Francisco Javier
A1 Espinosa, Gerard
A1 Vicente, Esther F
A1 Hesselstrand, Roger
A1 Riemekasten, Gabriela
A1 Witte, Torsten
A1 Distler, Jörg H W
A1 Voskuyl, Alexandre E
A1 Schuerwegh, Annemie J
A1 Shiels, Paul G
A1 Nordin, Annika
A1 Padyukov, Leonid
A1 Hoffmann-Vold, Anna-Maria
A1 Scorza, Raffaella
A1 Lunardi, Claudio
A1 Airo, Paolo
A1 van Laar, Jacob M
A1 Hunzelmann, Nicolas
A1 Gathof, Birgit S
A1 Kreuter, Alexander
A1 Herrick, Ariane
A1 Worthington, Jane
A1 Denton, Christopher P
A1 Zhou, Xiaodong
A1 Arnett, Frank C
A1 Fonseca, Carmen
A1 Koeleman, Bobby PC
A1 Assasi, Shervin
A1 Radstake, Timothy R D J
A1 Mayes, Maureen D
A1 Martín, Javier
A1 ,
YR 2013
UL http://ard.bmj.com/content/72/7/1233.abstract
AB 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.