7 documents found, page 1 of 1
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, ArturMultiple myeloma (MM) arises following malignant proliferation of plasma cells in the bone marrow, that secrete high amounts of specific monoclonal immunoglobulins or light chains, resulting in the massive production of unfolded or misfolded proteins. Autophagy can have a dual role in tumorigenesis, by eliminating these abnormal proteins to avoid cancer development, but also ensuring MM cell survival and promot...
Large expert-curated database for benchmarking document similarity detection in...
Brown, Peter; Tan, Aik-Choon; El-Esawi, Mohamed A.; Liehr, Thomas; Blanck, Oliver; Gladue, Douglas P.; Almeida, Gabriel M. F.; Cernava, TomislavMade available in DSpace on 2020-12-11T01:57:28Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-10-29; Griffith University Gowonda HPC Cluster; Queensland Cyber Infrastructure Foundation; Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents tha...
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, AnaThis study sought to evaluate the association of 28 single nucleotide polymorphisms (SNPs) within NFKB and inflammasome pathway genes with the risk of rheumatoid arthritis (RA) and response to TNF inhibitors (TNFi). We conducted a case-control study in a European population of 1194 RA patients and 1328 healthy controls. The association of potentially interesting markers was validated with data from the DANBIO (...
Polymorphisms at phase I-metabolizing enzyme and hormone receptor loci influenc...
Canet, Luz M.; Sánchez-Maldonado, Jose M.; Cáliz, Rafael; Rodríguez-Ramos, Ana; Lupiañez, Carmen B.; Canhao, Helena; Martínez-Bueno, ManuelThe aim of this case-control study was to evaluate whether 47 single-nucleotide polymorphisms (SNPs) in steroid hormone-related genes are associated with the risk of RA and anti-TNF drug response. We conducted a case-control study in 3 European populations including 2936 RA patients and 2197 healthy controls. Of those, a total of 1985 RA patients were treated with anti-TNF blockers. The association of potential...
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 ...
Risk of multiple myeloma is associated with polymorphisms within telomerase gen...
Campa, Daniele; Martino, Alessandro; Varkonyi, Judit; Lesueur, Fabienne; Jamroziak, Krzysztof; Landi, Stefano; Jurczyszyn, Artur; Marques, HerlanderCompelling biological and epidemiological evidences point to a key role of genetic variants of the TERT and TERC genes in cancer development. We analyzed the genetic variability of these two gene regions using samples of 2,267 multiple myeloma (MM) cases and 2,796 healthy controls. We found that a TERT variant, rs2242652, is associated with reduced MM susceptibility (OR?=?0.81; 95% CI: 0.72-0.92; p?=?0.001). In...
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 (...