Contribution of rs11465788 in IL23R gene to Crohn's disease susceptibility and phenotype in Chinese population

J Genet. 2009 Aug;88(2):191-6. doi: 10.1007/s12041-009-0027-9.

Abstract

Multiple studies have shown that IL23 cytokine plays an essential role in the development of autoimmune diseases by activating IL17-producing helper T (Th17) cells. Given that the susceptibility loci in IL23R for Crohn's disease (CD) is present in Western population and not in Asian population; we screened the IL23R gene by DNA sequencing to identify susceptibility loci in a selected CD cohort and confirmed it in all our subjects (134 CD and 131 controls). A novel nonsynonymous SNP (p.Gly149Arg, c.445G>A) and 35 single nucleotide polymorphisms (SNPs) were identified. Among them, only rs11465788 was implicated in CD susceptibility (P = 4.9 x 10(-4), OR = 0.30). Genotype-phenotypic interaction analysis showed that rs11465788 is associated with nonstricturing and nonpenetrating disease behaviour in CD patients (P = 0.015). Our results provide the evidence that rs11465788 may influence the susceptibility and clinical features of CD in Chinese population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Crohn Disease / ethnology
  • Crohn Disease / genetics*
  • DNA Primers
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Receptors, Interleukin / genetics*

Substances

  • DNA Primers
  • IL23R protein, human
  • Receptors, Interleukin