Journal of Genetics

, Volume 88, Issue 2, pp 191–196

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

  • Chen Bin
  • Zeng Zhirong
  • Wu Xiaoqin
  • Chen Minhu
  • Li Mei
  • Gao Xiang
  • Chen Baili
  • Hu Pinjin
Research Article

DOI: 10.1007/s12041-009-0027-9

Cite this article as:
Bin, C., Zhirong, Z., Xiaoqin, W. et al. J Genet (2009) 88: 191. 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 × 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.

Keywords

interleukin 23 receptorsingle nucleotide polymorphismsCrohn’s diseasesequencing

Copyright information

© Indian Academy of Sciences 2009

Authors and Affiliations

  • Chen Bin
    • 1
  • Zeng Zhirong
    • 1
  • Wu Xiaoqin
    • 1
  • Chen Minhu
    • 1
  • Li Mei
    • 1
  • Gao Xiang
    • 1
  • Chen Baili
    • 1
  • Hu Pinjin
    • 1
  1. 1.Department of Gastroenterology, the First Affiliated HospitalSun Yat-sen UniversityGuangzhouPeople’s Republic of China