Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease

Nat Commun. 2021 Apr 16;12(1):2298. doi: 10.1038/s41467-021-22548-8.

Abstract

Neutrophils play fundamental roles in innate immune response, shape adaptive immunity, and are a potentially causal cell type underpinning genetic associations with immune system traits and diseases. Here, we profile the binding of myeloid master regulator PU.1 in primary neutrophils across nearly a hundred volunteers. We show that variants associated with differential PU.1 binding underlie genetically-driven differences in cell count and susceptibility to autoimmune and inflammatory diseases. We integrate these results with other multi-individual genomic readouts, revealing coordinated effects of PU.1 binding variants on the local chromatin state, enhancer-promoter contacts and downstream gene expression, and providing a functional interpretation for 27 genes underlying immune traits. Collectively, these results demonstrate the functional role of PU.1 and its target enhancers in neutrophil transcriptional control and immune disease susceptibility.

Publication types

  • Observational Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Autoimmune Diseases / genetics*
  • Autoimmune Diseases / immunology
  • Chromatin / metabolism
  • Chromatin Immunoprecipitation Sequencing
  • Enhancer Elements, Genetic / genetics*
  • Female
  • Gene Expression Regulation / immunology*
  • Humans
  • Male
  • Middle Aged
  • Neutrophils / immunology*
  • Neutrophils / metabolism
  • Promoter Regions, Genetic / genetics
  • Proto-Oncogene Proteins / metabolism*
  • Quantitative Trait Loci / genetics
  • Quantitative Trait Loci / immunology
  • Trans-Activators / metabolism*
  • Young Adult

Substances

  • Chromatin
  • Proto-Oncogene Proteins
  • Trans-Activators
  • proto-oncogene protein Spi-1