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00925njm 22002777a 4500 dc 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 author 2016 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. 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 NFκB-related genes genetic polymorphisms interaction susceptibility Common Genetic Polymorphisms within NFκB-Related Genes and the Risk of Developing Invasive Aspergillosis