Characterization of variations in IL23A and IL23R genes: possible roles in multiple sclerosis and other neuroinflammatory demyelinating diseases

Aging (Albany NY). 2016 Nov 26;8(11):2734-2746. doi: 10.18632/aging.101058.


Multiple sclerosis is among the most serious inflammatory demyelinating diseases (IDD). Interleukin-23A (IL23A) regulates and coordinates the activities of immune cells by interacting with its receptor IL23R and plays key roles in the pathogenesis of immune inflammatory diseases. IDD, deemed to be a kind of autoimmune diseases, may involve IL23A in the pathogenesis. The aim of this work was to validate the hypothesized involvement of IL-23A and its receptor in IDD. We sequenced the IL-23A and IL-23R genes for 206 Chinese Han IDD patients and evaluated SNPs within or near those genes. The serum levels of IL23A in IDD participants were analyzed using ELISA. The statistical analyses were conducted using Chi-Square Tests as implemented in SPSS (version 19.0). The Hardy-Weinberg equilibrium test of the population was carried out using online software OEGE. Three variants rs2066808, rs2371494, rs11575248 in IL-23A gene and one variant rs1884444 in IL-23R gene were demonstrated to be associated with the risk of MS or other IDD diseases, and the expression level of serum IL-23A in the MS patients was also altered. We conclude that variants in IL-23A and IL-23R genes were associated with the risk of MS or other IDD diseases.

Keywords: IDD; SNP; gene expression level; interleukin-23A; multiple sclerosis.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Asian People / genetics
  • China
  • Demyelinating Diseases / blood
  • Demyelinating Diseases / genetics*
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Interleukin-23 Subunit p19 / blood
  • Interleukin-23 Subunit p19 / genetics*
  • Male
  • Middle Aged
  • Multiple Sclerosis / genetics*
  • Polymorphism, Single Nucleotide
  • Receptors, Interleukin / genetics*
  • Young Adult


  • IL23A protein, human
  • IL23R protein, human
  • Interleukin-23 Subunit p19
  • Receptors, Interleukin