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Common Genetic Polymorphisms within NFκB-Related Genes and the Risk of Developing Invasive Aspergillosis

Carmen B Lupiañez1, María T Villaescusa2, Agostinho Carvalho3

  • 1Genomic Oncology Area, GENYO, Center for Genomics and Oncological Research, Pfizer/University of Granada/Andalusian Regional Government, PTS GranadaGranada, Spain; Hematology Department, Virgen de las Nieves University HospitalGranada, Spain.

Frontiers in Microbiology
|August 30, 2016
PubMed

Insights

Genetic variations in key immune response genes do not significantly increase the risk of Invasive Aspergillosis (IA). However, a specific IRF4 genotype showed a potential increased risk in hematopoietic stem cell transplant patients, though not reaching statistical significance.

Area of Science:

  • Immunogenetics
  • Infectious Diseases
  • Medical Mycology

Background:

  • Invasive Aspergillosis (IA) is a serious opportunistic infection caused by Aspergillus mold.
  • Host genetic factors are increasingly recognized as important in IA susceptibility.
  • Immune response genes, including NFκB and IRF4, are potential candidates for influencing IA risk.

Purpose of the Study:

  • To investigate the association between single-nucleotide polymorphisms (SNPs) in NFκB1, NFκB2, RelA, RelB, Rel, and IRF4 genes and the risk of IA.
  • To evaluate the role of these genetic markers in a large cohort of high-risk patients.

Main Methods:

  • Genotyping of 14 SNPs in NFκB and IRF4 pathway genes in 834 high-risk patients (157 IA, 677 non-IA).
  • Statistical analysis to determine associations between SNPs, haplotypes, and IA risk.
  • Stratified analysis based on hematopoietic stem cell transplantation (HSCT) status.

Main Results:

  • No significant overall association was found between the studied SNPs and IA risk in the entire cohort.
  • A potential six-fold increased risk of IA was observed in HSCT patients carrying the IRF4 rs12203592T/T genotype, but this did not reach experiment-wide significance.
  • IRF4 haplotypes showed associations with decreased IA risk, likely attributed to the rs12203592 SNP.

Conclusions:

  • The investigated SNPs in NFκB and IRF4 pathway genes do not appear to have a clinically relevant impact on the overall risk of developing Invasive Aspergillosis.
  • Further research may be needed to clarify the role of specific IRF4 variants in subgroups like HSCT recipients.
  • No significant gene-gene interactions were identified for IA risk among the tested markers.
Keywords:
Invasive AspergillosisNFκB-related genesgenetic polymorphismsinteractionsusceptibility

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