Single-nucleotide polymorphisms and expression of IL23R in Chinese ankylosing spondylitis patients

Rheumatol Int. 2010 May;30(7):955-9. doi: 10.1007/s00296-009-1085-2. Epub 2009 Aug 19.

Abstract

The aim of this study was to investigate the association of single-nucleotide polymorphisms (SNPs) in IL23R with ankylosing spondylitis (AS) in Chinese Han population. Six SNPs were selected for analysis in AS patients and controls. The IL23R mRNA expression was detected using RT-PCR. The differences in the genotypes of rs11209032 and the differences in the genotypes and allele frequencies of rs6677188 between cases and controls were significant. The two SNPs rs11209032 and rs6677188 were in strong linkage disequilibrium. Haplotype analysis noted a higher proportion of GAC in cases and a higher proportion of GTC in controls. The patients with AS showed an elevated level of IL23R mRNA in PBMCs. This study suggested that IL23R polymorphisms were associated with susceptibility to AS in the Chinese population and that IL23R may be involved in the development of AS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian Continental Ancestry Group / genetics
  • Base Sequence / genetics
  • Biomarkers / analysis
  • Biomarkers / blood
  • China
  • DNA Mutational Analysis
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Interleukin-23 Subunit p19 / genetics
  • Linkage Disequilibrium / genetics
  • Male
  • Polymorphism, Single Nucleotide / genetics*
  • RNA, Messenger / metabolism
  • Receptors, Interleukin / genetics*
  • Spondylitis, Ankylosing / ethnology
  • Spondylitis, Ankylosing / genetics*
  • Spondylitis, Ankylosing / immunology*
  • Young Adult

Substances

  • Biomarkers
  • Genetic Markers
  • IL23A protein, human
  • IL23R protein, human
  • Interleukin-23 Subunit p19
  • RNA, Messenger
  • Receptors, Interleukin