RT Journal Article
T1 Common Genetic Polymorphisms within NFκB-Related Genes and the Risk of Developing Invasive Aspergillosis.
A1 Lupiañez, Carmen B
A1 Villaescusa, María T
A1 Carvalho, Agostinho
A1 Springer, Jan
A1 Lackner, Michaela
A1 Sánchez-Maldonado, José M
A1 Canet, Luz M
A1 Cunha, Cristina
A1 Segura-Catena, Juana
A1 Alcazar-Fuoli, Laura
A1 Solano, Carlos
A1 Fianchi, Luana
A1 Pagano, Livio
A1 Potenza, Leonardo
A1 Aguado, José M
A1 Luppi, Mario
A1 Cuenca-Estrella, Manuel
A1 Lass-Flörl, Cornelia
A1 Einsele, Hermann
A1 Vázquez, Lourdes
A1 PCRAGA Study Group, 
A1 Ríos-Tamayo, Rafael
A1 Loeffler, Jurgen
A1 Jurado, Manuel
A1 Sainz, Juan
K1 Invasive Aspergillosis
K1 NFκB-related genes
K1 genetic polymorphisms
K1 interaction
K1 susceptibility
AB Invasive Aspergillosis (IA) is an opportunistic infection caused by Aspergillus, a ubiquitously present airborne pathogenic mold. A growing number of studies suggest a major host genetic component in disease susceptibility. Here, we evaluated whether 14 single-nucleotide polymorphisms within NFκB1, NFκB2, RelA, RelB, Rel, and IRF4 genes influence the risk of IA in a population of 834 high-risk patients (157 IA and 677 non-IA) recruited through a collaborative effort involving the aspBIOmics consortium and four European clinical institutions. No significant overall associations between selected SNPs and the risk of IA were found in this large cohort. Although a hematopoietic stem cell transplantation (HSCT)-stratified analysis revealed that carriers of the IRF4 rs12203592T/T genotype had a six-fold increased risk of developing the infection when compared with those carrying the C allele (ORREC = 6.24, 95%CI 1.25-31.2, P = 0.026), the association of this variant with IA risk did not reach significance at experiment-wide significant threshold. In addition, we found an association of the IRF4AATC and IRF4GGTC haplotypes (not including the IRF4 rs12203592T risk allele) with a decreased risk of IA but the magnitude of the association was similar to the one observed in the single-SNP analysis, which indicated that the haplotypic effect on IA risk was likely due to the IRF4 rs12203592 SNP. Finally, no evidence of significant interactions among the genetic markers tested and the risk of IA was found. These results suggest that the SNPs on the studied genes do not have a clinically relevant impact on the risk of developing IA.
SN 1664-302X
YR 2016
FD 2016-08-12
LK https://hdl.handle.net/10668/28421
UL https://hdl.handle.net/10668/28421
LA en
DS RISalud
RD Apr 12, 2025