2026-06-14T03:38:03Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/91272024-11-28T15:56:22Zcom_20.500.12105_2052com_20.500.12105_2051com_20.500.12105_15322col_20.500.12105_19609col_20.500.12105_16938
Repisalud
author
Lupiañez, Carmen B
author
Villaescusa, María T
author
Carvalho, Agostinho
author
Springer, Jan
author
Lackner, Michaela
author
Sánchez-Maldonado, Jose Manuel
author
Canet, Luz M
author
Cunha, Cristina
author
Segura-Catena, Juana
author
Alcazar-Fuoli, Laura
author
Solano, Carlos
author
Fianchi, Luana
author
Pagano, Livio
author
Potenza, Leonardo
author
Aguado, José María
author
Luppi, Mario
author
Cuenca-Estrella, Manuel
author
Lass-Flörl, Cornelia
author
Einsele, Hermann
author
Vázquez, Lourdes
author
Ríos-Tamayo, Rafael
author
Loeffler, Jurgen
author
Jurado, Manuel
author
Sainz, Juan
funder
Instituto de Salud Carlos III
funder
Ministerio de Ciencia e Innovación (España)
funder
FWF Austrian Science Fund
funder
Fundação para a Ciência e Tecnologia (Portugal)
funder
Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)
2020-02-21T10:57:15Z
2020-02-21T10:57:15Z
2016
Front Microbiol. 2016 Aug 12;7:1243.
10.3389/fmicb.2016.01243
1664-302X
Frontiers in microbiology
27570521
http://hdl.handle.net/20.500.12105/9127
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.
eng
Invasive Aspergillosis
NFκB-related genes
genetic polymorphisms
interaction
susceptibility
Common Genetic Polymorphisms within NFκB-Related Genes and the Risk of Developing Invasive Aspergillosis
journal article
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CommonGeneticPolymorphismsWithin_2016.pdf
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CommonGeneticPolymorphismsWithin_2016.pdf.txt