%0 Journal Article %A MARIA CARMEN CÉNIT %A CARMEN P. SIMEÓN %A MADELON C. VONK %A JOSE L. CALLEJAS-RUBIO %A GERARD ESPINOSA %A PATRICIA CARREIRA %A FRANCISCO J. BLANCO %A JAVIER NARVAEZ %A CARLOS TOLOSA %A JOSÉ A. ROMÁN-IVORRA %A INMACULADA GÓMEZ-GARCÍA %A FRANCISCO J. GARCÍA-HERNÁNDEZ %A MARÍA GALLEGO %A ROSA GARCÍA-PORTALES %A MARÍA VICTORIA EGURBIDE %A VICENTE FONOLLOSA %A PALOMA GARCÍA de la PEÑA %A FRANCISCO J. LÓPEZ-LONGO %A MIGUEL A. GONZÁLEZ-GAY %A The Spanish Scleroderma Group %A ROGER HESSELSTRAND %A GABRIELA RIEMEKASTEN %A TORSTEN WITTE %A ALEXANDRE E. VOSKUYL %A ANNEMIE J. SCHUERWEGH %A RAJAN MADHOK %A CARMEN FONSECA %A CHRISTOPHER DENTON %A ANNIKA NORDIN %A ØYVIND PALM %A JACOB M. van LAAR %A NICOLAS HUNZELMANN %A JÖRG H.W. DISTLER %A ALEXANDER KREUTER %A ARIANE HERRICK %A JANE WORTHINGTON %A BOBBY P. KOELEMAN %A TIMOTHY R.D.J. RADSTAKE %A JAVIER MARTÍN %T Influence of the IL6 Gene in Susceptibility to Systemic Sclerosis %D 2012 %R 10.3899/jrheum.120506 %J The Journal of Rheumatology %P 2294-2302 %V 39 %N 12 %X 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. %U https://www.jrheum.org/content/jrheum/39/12/2294.full.pdf