IL7RA haplotype-associated alterations in cellular immune function and gene expression patterns in multiple sclerosis

Genes Immun. 2013 Oct;14(7):453-61. doi: 10.1038/gene.2013.40. Epub 2013 Aug 29.

Abstract

Interleukin-7 receptor alpha (IL7RA) is among the top listed candidate genes influencing the risk to develop multiple sclerosis (MS), an inflammatory demyelinating disease of the central nervous system. Soluble IL-7RA (sIL-7RA) protein and mRNA levels vary among the four common IL7RA haplotypes. Here we show and confirm that protective haplotype carriers have three times lower sIL-7RA serum levels than the other three haplotypes. High sIL-7RA concentrations significantly decrease IL-7-mediated STAT5 phosphorylation in CD4(+) T cells. Transcriptome analysis of unstimulated and stimulated CD4(+) T cells of MS patients carrying the different IL7RA haplotypes revealed complex and overlapping patterns in genes participating in cytokine signaling networks, apoptosis, cell cycle progression and cell differentiation. Our findings indicate that genetic variants of IL7RA result in haplotype-associated differential responsiveness to immunological stimuli that influence MS susceptibility not exclusively by varying levels of sIL-7RA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • CD4-Positive T-Lymphocytes / immunology
  • CD4-Positive T-Lymphocytes / metabolism
  • Female
  • Gene Regulatory Networks*
  • Haplotypes*
  • Humans
  • Interleukin-7 Receptor alpha Subunit / genetics*
  • Interleukin-7 Receptor alpha Subunit / metabolism
  • Killer Cells, Natural / immunology
  • Killer Cells, Natural / metabolism
  • Male
  • Middle Aged
  • Multiple Sclerosis / genetics*
  • Multiple Sclerosis / immunology
  • Phosphorylation
  • Polymorphism, Single Nucleotide
  • STAT5 Transcription Factor / metabolism
  • Transcription, Genetic*

Substances

  • Interleukin-7 Receptor alpha Subunit
  • STAT5 Transcription Factor