TY - JOUR
T1 - Influence of the IL6 gene in susceptibility to systemic sclerosis
AU - Cénit, Maria Carmen
AU - Simeón, Carmen P.
AU - Vonk, Madelon C.
AU - Callejas-Rubio, Jose L.
AU - Espinosa, Gerard
AU - Carreira, Patricia
AU - Blanco, Francisco J.
AU - Narvaez, Javier
AU - Tolosa, Carlos
AU - Román-Ivorra, José A.
AU - Gómez-Garćia, Inmaculada
AU - García-Hernández, Francisco J.
AU - Gallego, María
AU - García-Portales, Rosa
AU - Egurbide, María Victoria
AU - Fonollosa, Vicente
AU - De La Pẽna, Paloma García
AU - López-Longo, Francisco J.
AU - González-Gay, Miguel A.
AU - Hesselstrand, Roger
AU - Riemekasten, Gabriela
AU - Torsten, Witte
AU - Voskuyl, Alexandre E.
AU - Schuerwegh, Annemie J.
AU - Madhok, Rajan
AU - Fonseca, Carmen
AU - Denton, Christopher
AU - Nordin, Annika
AU - Palm, Øyvind
AU - Van Laar, Jacob M.
AU - Hunzelmann, Nicolas
AU - Distler, Jörg H.W.
AU - Kreuter, Alexander
AU - Herrick, Ariane
AU - Worthington, Jane
AU - Koeleman, Bobby P.
AU - Radstake, Timothy R.D.J.
AU - Martiń, Javier
AU - Ortego-Centeno, Norberto
AU - Ríos, Raquel
AU - Navarrete, Nuria
AU - Camps, María Teresa
AU - Fernández-Nebro, Antonio
AU - González-Escribano, María F.
AU - Sánchez-Román, Julio
AU - Castillo, M. Jesús
AU - Ángeles Aguirre, M.
AU - Fernández-Gutiérrez, Benjamín
AU - Rodríguez-Rodríguez, Luis
AU - Vicente, Esther
AU - Andreu, José Luis
AU - De Castro, Mónica Fernández
AU - Martínez, Lina
AU - Castellví, Iván
AU - Pros, Anna
AU - Carballeira, Mónica Rodríguez
AU - Mejías, Raquel López
AU - Díaz, Bernardino
AU - Trapiella, Luis
AU - Freire, María Del Carmen
AU - Vaqueiro, Inés
AU - Sáez-Comet, Luis
AU - Díaz, Federico
AU - Hernández, Vanesa
AU - Beltrán, Emma
AU - Robles, María Ángeles
AU - Oreiro, Natividad
N1 - Copyright:
Copyright 2013 Elsevier B.V., All rights reserved.
PY - 2012/12
Y1 - 2012/12
N2 - Objective. Systemic sclerosis (SSc) is a genetically complex autoimmune disease; the genetic component has not been fully defined. Interleukin 6 (IL-6) plays a crucial role in immunity and fibrosis, both key aspects of SSc. We investigated the influence of IL6 gene in the susceptibility and phenotype expression of SSc. Methods.We performed a large metaanalysis including a total of 2749 cases and 3189 controls from 6 white populations (Germany, The Netherlands, Norway, Spain, Sweden, and United Kingdom). Three IL6 single-nucleotide polymorphisms (SNP; rs2069827, rs1800795, and rs2069840) were selected by SNP tagging and genotyped using TaqMan® allele discrimination technology. Results. Individual SNP metaanalysis showed no evidence of association of the 3 IL6 genetic variants with the global disease. Phenotype analyses revealed a significant association between the minor allele of rs2069840 and the limited cutaneous SSc clinical form (Bonferroni p = 0.036, OR 1.14, 95% CI 1.04-1.25). A trend of association between the minor allele of the rs1800795 and the diffuse cutaneous SSc clinical form was also evident (Bonferroni p = 0.072, OR 0.86, 95% CI 0.77-0.96). In the IL6 allelic combination analyses, the GGC allelic combination rs2069827-rs1800795-rs2069840 showed an association with overall SSc (Bonferroni p = 0.016, OR 1.13, 95% CI 1.04-1.23). Conclusion. Our results suggest that the IL6 gene may influence the development of SSc and its progression. The Journal of Rheumatology
AB - Objective. Systemic sclerosis (SSc) is a genetically complex autoimmune disease; the genetic component has not been fully defined. Interleukin 6 (IL-6) plays a crucial role in immunity and fibrosis, both key aspects of SSc. We investigated the influence of IL6 gene in the susceptibility and phenotype expression of SSc. Methods.We performed a large metaanalysis including a total of 2749 cases and 3189 controls from 6 white populations (Germany, The Netherlands, Norway, Spain, Sweden, and United Kingdom). Three IL6 single-nucleotide polymorphisms (SNP; rs2069827, rs1800795, and rs2069840) were selected by SNP tagging and genotyped using TaqMan® allele discrimination technology. Results. Individual SNP metaanalysis showed no evidence of association of the 3 IL6 genetic variants with the global disease. Phenotype analyses revealed a significant association between the minor allele of rs2069840 and the limited cutaneous SSc clinical form (Bonferroni p = 0.036, OR 1.14, 95% CI 1.04-1.25). A trend of association between the minor allele of the rs1800795 and the diffuse cutaneous SSc clinical form was also evident (Bonferroni p = 0.072, OR 0.86, 95% CI 0.77-0.96). In the IL6 allelic combination analyses, the GGC allelic combination rs2069827-rs1800795-rs2069840 showed an association with overall SSc (Bonferroni p = 0.016, OR 1.13, 95% CI 1.04-1.23). Conclusion. Our results suggest that the IL6 gene may influence the development of SSc and its progression. The Journal of Rheumatology
UR - https://www.scopus.com/pages/publications/84870315000
U2 - 10.3899/jrheum.120506
DO - 10.3899/jrheum.120506
M3 - Journal articles
C2 - 23027890
AN - SCOPUS:84870315000
SN - 0315-162X
VL - 39
SP - 2294
EP - 2302
JO - Journal of Rheumatology
JF - Journal of Rheumatology
IS - 12
ER -
SDG 3 – Gesundheit und Wohlergehen