The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype

• Published in: Annals of the rheumatic diseases Vol. 68; no. 2; pp. 253 - 256
• Main Authors: Rueda, B, Broen, J, Torres, O, Simeon, C, Ortego-Centeno, N, Schrijvenaars, M M V A P, Vonk, M C, Fonollosa, V, van den Hoogen, F H J, Coenen, M J H, Sanchez-Román, J, Aguirre-Zamorano, M A, García-Portales, R, Pros, A, Camps, M T, Gonzalez-Gay, M A, Martin, J, Radstake, T R D J
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and European League Against Rheumatism 01.02.2009; BMJ Publishing Group; BMJ Publishing Group LTD
• Subjects: Adult; Age; Aged; Biological and medical sciences; Carbon monoxide; Case-Control Studies; Confidence intervals; Cytokines; Disease; Diseases of the osteoarticular system; Female; Gene Frequency; Genes; Genetic Predisposition to Disease; Genotype; Growth factors; Humans; Inflammation; Inflammatory bowel disease; Lungs; Lymphocytes; Male; Medical sciences; Middle Aged; Pathogenesis; Phenotype; Polymorphism, Single Nucleotide; Psoriasis; Pulmonary fibrosis; Receptors, Interleukin - genetics; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Scleroderma, Systemic - genetics; Software; Studies; Tomography; Immunopathology; Connective tissue disease; Skin disease; Phenotype; Risk factor; Systemic disease; Rheumatology; Autoimmune disease; Scleroderma
• ISSN: 0003-4967; 1468-2060
• DOI: 10.1136/ard.2008.096719

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 (rs11209032, rs1495965) 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.