Epigenomic analysis of primary human T cells reveals enhancers associated with TH2 memory cell differentiation and asthma susceptibility

Nat Immunol. 2014 Aug;15(8):777-88. doi: 10.1038/ni.2937. Epub 2014 Jul 6.

Abstract

A characteristic feature of asthma is the aberrant accumulation, differentiation or function of memory CD4(+) T cells that produce type 2 cytokines (TH2 cells). By mapping genome-wide histone modification profiles for subsets of T cells isolated from peripheral blood of healthy and asthmatic individuals, we identified enhancers with known and potential roles in the normal differentiation of human TH1 cells and TH2 cells. We discovered disease-specific enhancers in T cells that differ between healthy and asthmatic individuals. Enhancers that gained the histone H3 Lys4 dimethyl (H3K4me2) mark during TH2 cell development showed the highest enrichment for asthma-associated single nucleotide polymorphisms (SNPs), which supported a pathogenic role for TH2 cells in asthma. In silico analysis of cell-specific enhancers revealed transcription factors, microRNAs and genes potentially linked to human TH2 cell differentiation. Our results establish the feasibility and utility of enhancer profiling in well-defined populations of specialized cell types involved in disease pathogenesis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Asthma / genetics*
  • Asthma / immunology*
  • Binding Sites / genetics
  • Binding Sites / immunology
  • Cell Differentiation / immunology
  • Cells, Cultured
  • Core Binding Factor Alpha 3 Subunit / genetics
  • DNA Methylation / genetics
  • Epigenomics
  • Female
  • GATA3 Transcription Factor / genetics
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Histones / genetics
  • Histones / immunology
  • Humans
  • Immunologic Memory / immunology
  • Male
  • MicroRNAs / genetics
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic / genetics
  • Protein Binding / genetics
  • Protein Binding / immunology
  • Sequence Analysis, RNA
  • T-Box Domain Proteins / genetics
  • Th1 Cells / immunology*
  • Th2 Cells / immunology*
  • Young Adult

Substances

  • Core Binding Factor Alpha 3 Subunit
  • GATA3 Transcription Factor
  • GATA3 protein, human
  • Histones
  • MicroRNAs
  • Runx3 protein, human
  • T-Box Domain Proteins
  • T-box transcription factor TBX21

Associated data

  • GEO/GSE53646