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https://hdl.handle.net/1822/51988
Título: | Common genetic polymorphisms within NFκB-Related genes and the risk of developing invasive aspergillosis |
Autor(es): | 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. |
Palavras-chave: | Invasive Aspergillosis Genetic polymorphisms Susceptibility NF kappa B-related genes Interaction Invasive Aspergillosis, genetic polymorphisms, susceptibility, NFκB-related genes, interaction |
Data: | 12-Ago-2016 |
Editora: | Frontiers Media |
Revista: | Frontiers in Microbiology |
Citação: | Lupiañez, 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. |
Resumo(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. |
Tipo: | Artigo |
URI: | https://hdl.handle.net/1822/51988 |
DOI: | 10.3389/fmicb.2016.01243 |
ISSN: | 1664-302X |
Versão da editora: | https://www.frontiersin.org/articles/10.3389/fmicb.2016.01243/full |
Arbitragem científica: | yes |
Acesso: | Acesso aberto |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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2016.Lupiañez CB.Common genetic polymorphisms within NF?B-related genes and the risk of developing invasive aspergillosis.pdf | 326,77 kB | Adobe PDF | Ver/Abrir |