Genetic variation in pattern recognition receptors: functional consequences and susceptibility to infectious disease

Future Microbiol. 2015;10(6):989-1008. doi: 10.2217/fmb.15.37.

Abstract

Cells of the innate immune system are equipped with surface and cytoplasmic receptors for microorganisms called pattern recognition receptors (PRRs). PRRs recognize specific pathogen-associated molecular patterns and as such are crucial for the activation of the immune system. Currently, five different classes of PRRs have been described: Toll-like receptors, C-type lectin receptors, nucleotide-binding oligomerization domain-like receptors, retinoic acid-inducible gene I-like receptors and absent in melanoma 2-like receptors. Following their discovery, many sequence variants in PRR genes have been uncovered and shown to be implicated in human infectious diseases. In this review, we will discuss the effect of genetic variation in PRRs and their signaling pathways on susceptibility to infectious diseases in humans.

Keywords: disease susceptibility; genetic variation; infectious disease; pattern recognition; polymorphism; receptors; single nucleotide.

Publication types

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

MeSH terms

  • Communicable Diseases / genetics*
  • Communicable Diseases / immunology*
  • Genetic Predisposition to Disease*
  • Genetic Variation*
  • Humans
  • Immunity, Innate
  • Receptors, Pattern Recognition / genetics*
  • Signal Transduction

Substances

  • Receptors, Pattern Recognition