Journal
JOURNAL OF RHEUMATOLOGY
Volume 39, Issue 12, Pages 2294-2302Publisher
J RHEUMATOL PUBL CO
DOI: 10.3899/jrheum.120506
Keywords
SYSTEMIC SCLEROSIS; SCLERODERMA; IL6 GENE; POLYMORPHISMS; GENETIC STUDIES
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Funding
- GEN-FER from the Spanish Society of Rheumatology
- Spanish Ministry of Science [SAF2009-11110]
- Junta de Andalucia [CTS-180]
- RETICS Program
- Instituto de Salud Carlos III (ISCIII), Spain, within the VI PN de I+D+i [RD08/0075]
- European League Against Rheumatism
- Consejeria de Salud, Junta de Andalucia [PI-0590-2010]
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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 (R) 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. (First Release Oct 1 2012; J Rheumatol 2012;39:2294-302; doi:10.3899/jrheum.120506)
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