Genetic variants of interferon regulatory factor 5 associated with the risk of community-acquired pneumonia

Gene. 2018 Dec 30:679:73-80. doi: 10.1016/j.gene.2018.08.080. Epub 2018 Aug 31.

Abstract

Interferon regulatory factor 5 (IRF5) is a key transcription factor involved in the control of the expression of pro-inflammatory cytokines and immune responses to infection, and multiple polymorphisms of the IFR5 gene have been shown to be associated with autoimmune and infectious diseases. Several studies have investigated single nucleotide polymorphisms (SNPs) in a number of genes associated with the susceptibility to or severity and outcome of community-acquired pneumonia (CAP), but no research has yet been conducted on the role of IRF5 gene polymorphisms in CAP. In this study, we investigated the effects of four IFR5 variants, rs77571059, rs2004640, rs10954213, and rs3807306 on the susceptibility to CAP by genotyping 228 CAP patients and 177 healthy donors. Our results indicated that IFR5 variants rs77571059 and rs2004640 and haplotype GTAA were associated with the susceptibility to CAP and rs77571059 was related to the severity of the disease, suggesting that IFR5 variants may contribute to the pathogenesis of CAP and may serve as prognostic markers of CAP susceptibility and outcome.

Keywords: Haplotype; Infectious disease; Innate immune response; Single nucleotide polymorphism; Transcription factor.

MeSH terms

  • Adult
  • Aged
  • Case-Control Studies
  • Community-Acquired Infections / genetics
  • Female
  • Genetic Association Studies / methods*
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Genotype
  • Haplotypes
  • Humans
  • Interferon Regulatory Factors / genetics*
  • Male
  • Middle Aged
  • Pneumonia / genetics*
  • Polymorphism, Single Nucleotide*
  • Severity of Illness Index

Substances

  • Genetic Markers
  • IRF5 protein, human
  • Interferon Regulatory Factors