PT  - JOURNAL ARTICLE
AU  - Diaz-Gallo, Lina-Marcela
AU  - Simeon, Carmen P
AU  - Broen, Jasper C
AU  - Ortego-Centeno, Norberto
AU  - Beretta, Lorenzo
AU  - Vonk, Madelon C
AU  - Carreira, Patricia E
AU  - Vargas, Sofia
AU  - Román-Ivorra, José Andrés
AU  - González-Gay, Miguel A
AU  - Tolosa, Carlos
AU  - López-Longo, Francisco Javier
AU  - Espinosa, Gerard
AU  - Vicente, Esther F
AU  - Hesselstrand, Roger
AU  - Riemekasten, Gabriela
AU  - Witte, Torsten
AU  - Distler, Jörg H W
AU  - Voskuyl, Alexandre E
AU  - Schuerwegh, Annemie J
AU  - Shiels, Paul G
AU  - Nordin, Annika
AU  - Padyukov, Leonid
AU  - Hoffmann-Vold, Anna-Maria
AU  - Scorza, Raffaella
AU  - Lunardi, Claudio
AU  - Airo, Paolo
AU  - van Laar, Jacob M
AU  - Hunzelmann, Nicolas
AU  - Gathof, Birgit S
AU  - Kreuter, Alexander
AU  - Herrick, Ariane
AU  - Worthington, Jane
AU  - Denton, Christopher P
AU  - Zhou, Xiaodong
AU  - Arnett, Frank C
AU  - Fonseca, Carmen
AU  - Koeleman, Bobby PC
AU  - Assasi, Shervin
AU  - Radstake, Timothy R D J
AU  - Mayes, Maureen D
AU  - Martín, Javier
AU  - ,
TI  - Implication of <em>IL-2/IL-21</em> region in systemic sclerosis genetic susceptibility
AID  - 10.1136/annrheumdis-2012-202357
DP  - 2013 Jul 01
TA  - Annals of the Rheumatic Diseases
PG  - 1233--1238
VI  - 72
IP  - 7
4099  - http://ard.bmj.com/content/72/7/1233.short
4100  - http://ard.bmj.com/content/72/7/1233.full
SO  - Ann Rheum Dis2013 Jul 01; 72
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.