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Polymorphisms within the TNFSF4 and MAPKAPK2 Loci influence the risk of develop...

Sánchez-Maldonado, Jose Manuel; Moñiz-Díez, Ana; ter Horst, Rob; Campa, Daniele; Cabrera-Serrano, Antonio José; Martínez-Bueno, Manuel

Here, we assessed whether 36 single nucleotide polymorphisms (SNPs) within the <i>TNFSF4</i> and <i>MAPKAPK2</i> loci influence the risk of developing invasive aspergillosis (IA). We conducted a two-stage case control study including 911 high-risk patients diagnosed with hematological malignancies that were ascertained through the aspBIOmics consortium. The meta-analysis of the discovery and replication populat...


Common genetic polymorphisms within NFκB-Related genes and the risk of developi...

Lupianez, Carmen B.; Villaescusa, Maria T.; Carvalho, Agostinho; Springer, Jan; Lackner, Michaela; Sanchez-Maldonado, Jose M.; Canet, Luz M.

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 patie...


Genetic PTX3 deficiency and aspergillosis in stem-cell transplantation

Rodrigues, Fernando José dos Santos; Cunha, Cristina; Aversa, Franco; Lacerda, João F.; Busca, Alessandro; Kunzai, Oliver; Grube, Matthias

BACKGROUND: The soluble pattern-recognition receptor known as long pentraxin 3 (PTX3) has a nonredundant role in antifungal immunity. The contribution of single-nucleotide polymorphisms (SNPs) in PTX3 to the development of invasive aspergillosis is unknown. METHODS: We screened an initial cohort of 268 patients undergoing hematopoietic stem-cell transplantation (HSCT) and their donors for PTX3 SNPs modifying th...


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