title: The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype.
abstract: OBJECTIVE
  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.
authors: Instituto de Parasitologia y Biomedicina Lopez-Neyra, CSIC, Granada, Spain.
authors: B
authors: B
authors: Rueda
authors: J
authors: J
authors: Broen
authors: O
authors: O
authors: Torres
authors: C
authors: C
authors: Simeon
authors: N
authors: N
authors: Ortego-Centeno
authors: M M V A P
authors: MM
authors: Schrijvenaars
authors: M C
authors: MC
authors: Vonk
authors: V
authors: V
authors: Fonollosa
authors: F H J
authors: FH
authors: van den Hoogen
authors: M J H
authors: MJ
authors: Coenen
authors: J
authors: J
authors: Sanchez-Román
authors: M A
authors: MA
authors: Aguirre-Zamorano
authors: R
authors: R
authors: García-Portales
authors: A
authors: A
authors: Pros
authors: M T
authors: MT
authors: Camps
authors: M A
authors: MA
authors: Gonzalez-Gay
authors: J
authors: J
authors: Martin
authors: T R D J
authors: TR
authors: Radstake
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D018123:Receptors, Interleukin / Q000235:genetics*; D012595:Scleroderma, Systemic / Q000235:genetics*
chemical_list: C515500:IL23R protein, human; D018123:Receptors, Interleukin