Objectives: Multiple studies indicate the role of the interleukin (IL)-17/IL-23 axis in autoimmune diseases, including systemic sclerosis (SSc). The aim of the current study was to investigate the possible implication of the IL23R gene in SSc susceptibility and/or clinical phenotype. Methods: An initial case-control study in 143 Dutch patients with SSc and geographically matched healthy individuals (n = 246) was carried out and followed by a replication study in a cohort of 365 Spanish patients with SSc and 515 healthy individuals. Seven single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected and genotyped using a Taqman assay. Results: Using a Dutch cohort of patients with SSc and controls we observed an association between two (rs 11209032, rs 1495965) of the seven tested SNPs and disease susceptibility (allelic p values: p = 0.02 and p = 0.01 respectively). However, a replication study in an independent Spanish cohort did not confirm these findings and reveal no association of any of the IL23R-tested SNP with disease susceptibility or clinical phenotype. Similarly, a meta-analysis considering both populations did not reveal any significant association. In addition, no association was observed between IL23R genetic variants and SSc clinical phenotypes. Conclusions: Our results suggest that the IL23R gene is not associated with SSc susceptibility or clinical phenotype.
CITATION STYLE
Rueda, B., Broen, J., Torres, O., Simeon, C., Ortego-Centeno, N., Schrijvenaars, M. M. V. A. P., … Radstake, T. R. D. J. (2009). The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype. Annals of the Rheumatic Diseases, 68(2), 253–256. https://doi.org/10.1136/ard.2008.096719
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