Influence of the IL6 gene in susceptibility to systemic sclerosis

Maria Carmen Cénit*, Carmen P. Simeón, Madelon C. Vonk, Jose L. Callejas-Rubio, Gerard Espinosa, Patricia Carreira, Francisco J. Blanco, Javier Narvaez, Carlos Tolosa, José A. Román-Ivorra, Inmaculada Gómez-Garćia, Francisco J. García-Hernández, María Gallego, Rosa García-Portales, María Victoria Egurbide, Vicente Fonollosa, Paloma García De La Pẽna, Francisco J. López-Longo, Miguel A. González-Gay, Roger HesselstrandGabriela Riemekasten, Witte Torsten, Alexandre E. Voskuyl, Annemie J. Schuerwegh, Rajan Madhok, Carmen Fonseca, Christopher Denton, Annika Nordin, Øyvind Palm, Jacob M. Van Laar, Nicolas Hunzelmann, Jörg H.W. Distler, Alexander Kreuter, Ariane Herrick, Jane Worthington, Bobby P. Koeleman, Timothy R.D.J. Radstake, Javier Martiń, Norberto Ortego-Centeno, Raquel Ríos, Nuria Navarrete, María Teresa Camps, Antonio Fernández-Nebro, María F. González-Escribano, Julio Sánchez-Román, M. Jesús Castillo, M. Ángeles Aguirre, Benjamín Fernández-Gutiérrez, Luis Rodríguez-Rodríguez, Esther Vicente, José Luis Andreu, Mónica Fernández De Castro, Lina Martínez, Iván Castellví, Anna Pros, Mónica Rodríguez Carballeira, Raquel López Mejías, Bernardino Díaz, Luis Trapiella, María Del Carmen Freire, Inés Vaqueiro, Luis Sáez-Comet, Federico Díaz, Vanesa Hernández, Emma Beltrán, María Ángeles Robles, Natividad Oreiro

*Corresponding author for this work
30 Citations (Scopus)


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

Original languageEnglish
JournalJournal of Rheumatology
Issue number12
Pages (from-to)2294-2302
Number of pages9
Publication statusPublished - 12.2012

Research Areas and Centers

  • Academic Focus: Center for Infection and Inflammation Research (ZIEL)


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