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http://hdl.handle.net/2445/200907
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DC Field | Value | Language |
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dc.contributor.author | Cabrera Serrano, Antonio José | - |
dc.contributor.author | Sánchez Maldonado, José Manuel | - |
dc.contributor.author | Ter Horst, Rob | - |
dc.contributor.author | Macauda, Angelica | - |
dc.contributor.author | García Martín, Paloma | - |
dc.contributor.author | Benavente, Yolanda | - |
dc.contributor.author | Landi, Stefano | - |
dc.contributor.author | Clay-Gilmour, Alyssa | - |
dc.contributor.author | Niazi, Yasmeen | - |
dc.contributor.author | Espinet, Blanca | - |
dc.contributor.author | Rodríguez Sevilla, Juan José | - |
dc.contributor.author | Pérez, Eva María | - |
dc.contributor.author | Maffei, Rossana | - |
dc.contributor.author | Blanco, Gonzalo | - |
dc.contributor.author | Giaccherini, Matteo | - |
dc.contributor.author | Cerhan, James R. | - |
dc.contributor.author | Marasca, Roberto | - |
dc.contributor.author | López Nevot, Miguel Ángel | - |
dc.contributor.author | Chen Liang, Tzu | - |
dc.contributor.author | Thomsen, Hauke | - |
dc.contributor.author | Gámez, Irene | - |
dc.contributor.author | Campa, Daniele | - |
dc.contributor.author | Moreno Aguado, Víctor | - |
dc.contributor.author | Sanjosé Llongueras, Silvia de | - |
dc.contributor.author | Marcos Gragera, Rafael | - |
dc.contributor.author | García Álvarez, María | - |
dc.contributor.author | Dierssen Sotos, Trinidad | - |
dc.contributor.author | Jerez, Andrés | - |
dc.contributor.author | Butrym, Aleksandra | - |
dc.contributor.author | Norman, Aaron D. | - |
dc.contributor.author | Luppi, Mario | - |
dc.contributor.author | Slager, Susan L. | - |
dc.contributor.author | Hemminki, Kari | - |
dc.contributor.author | Li, Yang | - |
dc.contributor.author | Berndt, Sonja I. | - |
dc.contributor.author | Casabonne, Delphine | - |
dc.contributor.author | Alcoceba, Miguel | - |
dc.contributor.author | Puiggros Metje, Anna M. | - |
dc.contributor.author | Netea, Mihai G. | - |
dc.contributor.author | Försti, Asta | - |
dc.contributor.author | Canzian, Federico | - |
dc.contributor.author | Sainz, Juan | - |
dc.date.accessioned | 2023-07-19T11:42:56Z | - |
dc.date.available | 2023-07-19T11:42:56Z | - |
dc.date.issued | 2023-04-28 | - |
dc.identifier.issn | 1422-0067 | - |
dc.identifier.uri | http://hdl.handle.net/2445/200907 | - |
dc.description.abstract | Chronic lymphocytic leukemia (CLL) is the most common leukemia among adults worldwide. Although genome-wide association studies (GWAS) have uncovered the germline genetic component underlying CLL susceptibility, the potential use of GWAS-identified risk variants to predict disease progression and patient survival remains unexplored. Here, we evaluated whether 41 GWAS-identified risk variants for CLL could influence overall survival (OS) and disease progression, defined as time to first treatment (TTFT) in a cohort of 1039 CLL cases ascertained through the CRuCIAL consortium. Although this is the largest study assessing the effect of GWAS-identified susceptibility variants for CLL on OS, we only found a weak association of ten single nucleotide polymorphisms (SNPs) with OS (p < 0.05) that did not remain significant after correction for multiple testing. In line with these results, polygenic risk scores (PRSs) built with these SNPs in the CRuCIAL cohort showed a modest association with OS and a low capacity to predict patient survival, with an area under the receiver operating characteristic curve (AUROC) of 0.57. Similarly, seven SNPs were associated with TTFT (p < 0.05); however, these did not reach the multiple testing significance threshold, and the meta-analysis with previous published data did not confirm any of the associations. As expected, PRSs built with these SNPs showed reduced accuracy in prediction of disease progression (AUROC = 0.62). These results suggest that susceptibility variants for CLL do not impact overall survival and disease progression in CLL patients. | - |
dc.format.extent | 11 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | MDPI AG | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.3390/ijms24098005 | - |
dc.relation.ispartof | International Journal of Molecular Sciences, 2023, vol. 24, num. 9 | - |
dc.relation.uri | https://doi.org/10.3390/ijms24098005 | - |
dc.rights | cc by (c) Cabrera Serrano, Antonio José et al, 2023 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Leucèmia limfocítica crònica | - |
dc.subject.classification | Genètica | - |
dc.subject.other | Chronic lymphocytic leukemia | - |
dc.subject.other | Genetics | - |
dc.title | Do GWAS-Identified Risk Variants for Chronic Lymphocytic Leukemia Influence Overall Patient Survival and Disease Progression? | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2023-06-22T08:13:22Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 37175717 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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ijms-24-08005-v2.pdf | 771.03 kB | Adobe PDF | View/Open |
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