TY - JOUR T1 - Influence of the <em>IL6</em> Gene in Susceptibility to Systemic Sclerosis JF - The Journal of Rheumatology JO - J Rheumatol SP - 2294 LP - 2302 DO - 10.3899/jrheum.120506 VL - 39 IS - 12 AU - MARIA CARMEN CÉNIT AU - CARMEN P. SIMEÓN AU - MADELON C. VONK AU - JOSE L. CALLEJAS-RUBIO AU - GERARD ESPINOSA AU - PATRICIA CARREIRA AU - FRANCISCO J. BLANCO AU - JAVIER NARVAEZ AU - CARLOS TOLOSA AU - JOSÉ A. ROMÁN-IVORRA AU - INMACULADA GÓMEZ-GARCÍA AU - FRANCISCO J. GARCÍA-HERNÁNDEZ AU - MARÍA GALLEGO AU - ROSA GARCÍA-PORTALES AU - MARÍA VICTORIA EGURBIDE AU - VICENTE FONOLLOSA AU - PALOMA GARCÍA de la PEÑA AU - FRANCISCO J. LÓPEZ-LONGO AU - MIGUEL A. GONZÁLEZ-GAY AU - The Spanish Scleroderma Group AU - ROGER HESSELSTRAND AU - GABRIELA RIEMEKASTEN AU - TORSTEN WITTE AU - ALEXANDRE E. VOSKUYL AU - ANNEMIE J. SCHUERWEGH AU - RAJAN MADHOK AU - CARMEN FONSECA AU - CHRISTOPHER DENTON AU - ANNIKA NORDIN AU - ØYVIND PALM AU - JACOB M. van LAAR AU - NICOLAS HUNZELMANN AU - JÖRG H.W. DISTLER AU - ALEXANDER KREUTER AU - ARIANE HERRICK AU - JANE WORTHINGTON AU - BOBBY P. KOELEMAN AU - TIMOTHY R.D.J. RADSTAKE AU - JAVIER MARTÍN Y1 - 2012/12/01 UR - http://www.jrheum.org/content/39/12/2294.abstract 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. ER -