Involvement of IL-6 and IL-1 receptor antagonist on intellectual disability

Immunol Lett. 2014 Nov;162(1 Pt A):124-31. doi: 10.1016/j.imlet.2014.08.003. Epub 2014 Aug 11.

Abstract

Imbalances in the regulation of pro-inflammatory cytokines have been increasingly correlated with several neurodevelopmental disorders and their role in neuronal development is being investigated. To assess the possible influence of cytokines on the onset of intellectual disability (ID), we studied the polymorphisms of thirteen proinflammatory cytokine genes in 81 patients and 61 healthy controls. We demonstrated a significant association of interleukin-6 (IL-6) single-nucleotide polymorphism (SNP) (-174 G/C and nt565 G/A), and interleukin-1 receptor antagonist (IL-1RA) (Mspa-I 11100) SNP with ID. Moreover, the IL-6 SNPs is an unfavorable genetic predisposition for females. The evaluation of circulating levels of IL-6 and IL-1RA showed that the serum concentrations of IL-6 were significantly higher in ID patients than in controls. These data suggest that functional cytokine gene polymorphisms may influence the development of ID.

Keywords: Cytokine; IL-1RA; IL-6; Intellectual disability; Polymorphism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alleles
  • Case-Control Studies
  • Child
  • Cytokines / blood
  • Cytokines / genetics*
  • Cytokines / metabolism
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Haplotypes
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / metabolism
  • Interleukin 1 Receptor Antagonist Protein / blood
  • Interleukin 1 Receptor Antagonist Protein / genetics*
  • Interleukin 1 Receptor Antagonist Protein / metabolism
  • Interleukin-6 / genetics*
  • Male
  • Polymorphism, Single Nucleotide

Substances

  • Cytokines
  • Interleukin 1 Receptor Antagonist Protein
  • Interleukin-6