12 documents found, page 1 of 2
Polymorphisms within autophagy-related genes as susceptibility biomarkers for m...
Clavero, Esther; Sanchez-Maldonado, José Manuel; Macauda, Angelica; Ter Horst, Rob; Marques, Maria Belém Sousa Sampaio; Jurczyszyn, ArturFunctional data used in this project have been meticulously catalogued and archived in the BBMRI-NL data infrastructure (https://hfgp.bbmri.nl/, accessed on 12 February 2020) using the MOLGENIS open-source platform for scientific data.; Multiple myeloma (MM) arises following malignant proliferation of plasma cells in the bone marrow, that secrete high amounts of specific monoclonal immunoglobulins or light chai...
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, ManuelHere, 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...
NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis ...
Manuel Sánchez-Maldonado, Jose; Martínez-Bueno, Manuel; Canhao, Helena; ter Horst, Rob; Muñoz-Peña, Sonia; Moñiz-Díez, Ana; Rodríguez-Ramos, Ana© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Cre-ative Commons license, and indicate if changes were made. The images or other third party...
IL-10 overexpression predisposes to invasive aspergillosis by suppressing antif...
Cunha, Cristina; Gonçalves, Samuel M.; Duarte-Oliveira, Cláudio; Leite, Luís; Lagrou, Katrien; Marques, António; Lupiañez, Carmen B.; Mesquita, Inês© 2017 American Academy of Allergy, Asthma & Immunology; Proinflammatory immune responses are critically required for antimicrobial host defenses; however, excessive inflammation has the potential to damage host tissues thereby paradoxically contributing to the progression of infection. A central negative regulator of inflammatory responses is IL-10, an immunosuppressive cytokine with a wide variety of function...
IL-10 overexpression predisposes to invasive aspergillosis by suppressing antif...
Cunha, Cristina; Gonçalves, Samuel M.; Duarte-Oliveira, Claudio; Leite, Luis; Lagrou, Katrien; Marques, António; Lupianez, Carmen B.; Mesquita, Inês[Excerpt] To the Editor: Proinflammatory immune responses are critically required for antimicrobial host defenses; however, excessive inflammation has the potential to damage host tissues thereby paradoxically contributing to the progression of infection.[...]; Supported by the Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the European Regi...
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...
Type 2 diabetes-related variants influence the risk of developing multiple myel...
Ríos, Rafael; Lupiañez, Carmen Belén; Campa, Daniele; Martino, Alessandro; Martínez-López, Joaquin; Martínez-Bueno, Manuel; Varkonyi, JuditType 2 diabetes (T2D) has been suggested to be a risk factor for multiple myeloma (MM), but the relationship between the two traits is still not well understood. The aims of this study were to evaluate whether 58 genome-wide-association-studies (GWAS)-identified common variants for T2D influence the risk of developing MM and to determine whether predictive models built with these variants might help to predict ...
Genetic variants and multiple myeloma risk : IMMEnSE validation of the best rep...
Martino, Alessandro; Campa, Daniele; Jurczyszyn, Artur; Martínez-Lopez, Joaquín; Moreno, Maria José; Varkonyi, Judit; Dumontet, CharlesBACKGROUND: Genetic background plays a role in multiple myeloma susceptibility. Several single-nucleotide polymorphisms (SNP) associated with genetic susceptibility to multiple myeloma were identified in the last years, but only a few of them were validated in independent studies. METHODS: With the aim to conclusively validate the strongest associations so far reported, we selected the polymorphisms rs2227667 (...
Polymorphisms in regulators of xenobiotic transport and metabolism genes PXR an...
Martino, Alessandro; Sainz, Juan; Reis, R. M.; Moreno, Victor; Buda, Gabriele; Lesueur, Fabienne; Marques, Herlander; Garcıía-Sanz, Ramón; Ríos, RafaelThe exposure to pesticides and toxic compounds in xenobiotic transport and metabolism genes has been shown to affect risk of developing multiple myeloma (MM). Therefore, we hypothesized that genetic variations in xenobiotic transport and metabolism regulator genes PXR (NR1I2) and CAR (NR1I3) could determine a difference in MM susceptibility. Ten tagging single-nucleotide polymorphisms (SNPs) for PXR and seven f...
Comprehensive investigation of genetic variation in the 8q24 region and multipl...
Reis, R. M.; Campa, Danielr; Martino, Alessandro; Sainz, Juan; Buda, Gabriele; Jamroziak, Krzysztof; Weinhold, Niels; García-Sanz, Ramón; Jurado, ManuelGenome-wide association studies (GWAS) have shown that the 8q24 region harbours multiple independent cancer susceptibility loci, even though it is devoid of genes. Given that no GWAS data are currently available for multiple myeloma (MM), we tested the hypothesis that genetic variants in this region could play a role in MM risk. We genotyped 20 single nucleotide polymorphisms of 8q24 in 1188 MM cases and 2465 c...