RT Journal Article
SR Electronic
T1 Influence of the <em>IL6</em> Gene in Susceptibility to Systemic Sclerosis
JF The Journal of Rheumatology
JO J Rheumatol
FD The Journal of Rheumatology
SP jrheum.120506
DO 10.3899/jrheum.120506
A1 Maria Carmen  Cénit
A1 Carmen P.  Simeón
A1 Madelon C.  Vonk
A1 Jose L.  Callejas-Rubio
A1 Gerard Espinosa
A1 Patricia Carreira
A1 Francisco J.  Blanco
A1 Javier Narvaez
A1 Carlos Tolosa
A1 José A.  Román-Ivorra
A1 Inmaculada Gómez-García
A1 Francisco J.  García-Hernández
A1 María Gallego
A1 Rosa García-Portales
A1 María Victoria  Egurbide
A1 Vicente Fonollosa
A1 Paloma García  de la Peña
A1 Francisco J.  López-Longo
A1 Miguel A.  González-Gay
A1 , the Spanish Scleroderma Group
A1 Roger Hesselstrand
A1 Gabriela Riemekasten
A1 Torsten Witte
A1 Alexandre E.  Voskuyl
A1 Annemie J.  Schuerwegh
A1 Rajan Madhok
A1 Carmen Fonseca
A1 Christopher Denton
A1 Annika Nordin
A1 Øyvind Palm
A1 Jacob M.  van Laar
A1 Nicolas Hunzelmann
A1 Jörg H.W.  Distler
A1 Alexander Kreuter
A1 Ariane Herrick
A1 Jane Worthington
A1 Bobby P.  Koeleman
A1 Timothy R.D.J.  Radstake
A1 Javier Martín
YR 2012
UL http://www.jrheum.org/content/early/2012/09/27/jrheum.120506.abstract
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.