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TitleCommon genetic polymorphisms within NFκB-Related genes and the risk of developing invasive aspergillosis
Author(s)Lupianez, Carmen B.
Villaescusa, Maria T.
Carvalho, Agostinho
Springer, Jan
Lackner, Michaela
Sanchez-Maldonado, Jose M.
Canet, Luz M.
Cunha, Cristina
Segura-Catena, Juana
Alcazar-Fuoli, Laura
Solano, Carlos
Fianchi, Luana
Pagano, Livio
Potenza, Leonardo
Aguado, Jose M.
Luppi, Mario
Cuenca-Estrella, Manuel
Lass-Floerl, Cornelia
Einsele, Hermann
Vazquez, Lourdes
Rios-Tamayo, Rafael
Loeffler, Jurgen
Jurado, Manuel
Sainz, Juan
et. al.
KeywordsInvasive Aspergillosis
Genetic polymorphisms
NF kappa B-related genes
Invasive Aspergillosis, genetic polymorphisms, susceptibility, NFκB-related genes, interaction
Issue date12-Aug-2016
PublisherFrontiers Media
JournalFrontiers in Microbiology
CitationLupiañez, C. B., Villaescusa, M. T., Carvalho, A., Springer, J., Lackner, M., Sánchez-Maldonado, J. M., ... & Solano, C. (2016). Common genetic polymorphisms within NFκB-related genes and the risk of developing invasive aspergillosis. Frontiers in microbiology, 7, 1243.
Abstract(s)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 NF kappa B1, NF kappa B2, 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 aspBlOmics 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 IRF4(AATC) and IRF4(GGTC) haplotypes (not including the IRF4(rs12203592T/T) 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.
Publisher version
AccessOpen access
Appears in Collections:ICVS - Artigos em revistas internacionais / Papers in international journals

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