Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/72917
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Campo DC | Valor | Idioma |
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dc.contributor.author | Castro, Isabel | por |
dc.contributor.author | Marques, Maria Belém Sousa Sampaio | por |
dc.contributor.author | Areias, Anabela Cepa | por |
dc.contributor.author | Sousa, Hugo | por |
dc.contributor.author | Fernandes, Ângela | por |
dc.contributor.author | Sanchez-Maldonado, José Manuel | por |
dc.contributor.author | Cunha, Cristina Amorim | por |
dc.contributor.author | Carvalho, Agostinho | por |
dc.contributor.author | Sainz, Juan | por |
dc.contributor.author | Ludovico, Paula | por |
dc.date.accessioned | 2021-05-27T14:26:58Z | - |
dc.date.available | 2021-05-27T14:26:58Z | - |
dc.date.issued | 2021-03-16 | - |
dc.identifier.citation | Castro, I.; Sampaio-Marques, B.; C. Areias, A.; Sousa, H.; Fernandes, Â.; Sanchez-Maldonado, J.M.; Cunha, C.; Carvalho, A.; Sainz, J.; Ludovico, P. Functional Genetic Variants in ATG10 Are Associated with Acute Myeloid Leukemia. Cancers 2021, 13, 1344. https://doi.org/10.3390/cancers13061344 | por |
dc.identifier.uri | https://hdl.handle.net/1822/72917 | - |
dc.description.abstract | Acute myeloid leukemia (AML) is the most common acute leukemia, characterized by a heterogeneous genetic landscape contributing, among others, to the occurrence of metabolic reprogramming. Autophagy, a key player on metabolism, plays an essential role in AML. Here, we examined the association of three potentially functional genetic polymorphisms in the <i>ATG10</i> gene, central for the autophagosome formation. We screened a multicenter cohort involving 309 AML patients and 356 healthy subjects for three <i>ATG10</i> SNPs: rs1864182T>G, rs1864183C>T and rs3734114T>C. The functional consequences of the <i>ATG10</i> SNPs in its canonical function were investigated in vitro using peripheral blood mononuclear cells from a cohort of 46 healthy individuals. Logistic regression analysis adjusted for age and gender revealed that patients carrying the <i>ATG10</i><sub>rs1864182G</sub> allele showed a significantly decreased risk of developing AML (OR [odds ratio] = 0.58, <i>p</i> = 0.001), whereas patients carrying the homozygous <i>ATG10</i><sub>rs3734114C</sub> allele had a significantly increased risk of developing AML (OR = 2.70, <i>p</i> = 0.004). Functional analysis showed that individuals carrying the <i>ATG10</i><sub>rs1864182G</sub> allele had decreased autophagy when compared to homozygous major allele carriers. Our results uncover the potential of screening for <i>ATG10</i> genetic variants in AML prevention strategies, in particular for subjects carrying other AML risk factors such as elderly individuals with clonal hematopoiesis of indeterminate potential. | por |
dc.description.sponsorship | This research was funded by FEDER and Foundation for Science and Technology (FCT), grant number POCI-01-0145-FEDER-028159 and POCI-01-0145-FEDER-030782); by Fondo de Investigaciones Sanitarias (Madrid, Spain), grant number ISCIII-FEDER PI20/01845, ISCIII-FEDER PI12/02688, and ISCIII-FEDER PI17/02276. B.S.M. was funded by FCT, grant number DL 57/2016. A.C.A. was funded by FCT, grant number POCI-01-0145-FEDER-028159. C.C. was funded by FCT, grant number CEECIND/04058/2018. A.C. was funded by FCT, grant number CEECIND/03628/2017. | por |
dc.language.iso | eng | por |
dc.publisher | Multidisciplinary Digital Publishing Institute (MDPI) | por |
dc.relation | POCI-01-0145-FEDER-028159 | por |
dc.relation | POCI-01-0145-FEDER-030782 | por |
dc.relation | CEECIND/04058/2018 | por |
dc.relation | CEECIND/03628/2017 | por |
dc.rights | openAccess | por |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | por |
dc.subject | Acute myeloid leukemia | por |
dc.subject | ATG10 | por |
dc.subject | Autophagy | por |
dc.subject | Single nucleotide polymorphism | por |
dc.title | Functional genetic variants in ATG10 are associated with acute myeloid leukemia | por |
dc.type | article | por |
dc.peerreviewed | yes | por |
dc.relation.publisherversion | https://www.mdpi.com/2072-6694/13/6/1344 | por |
oaire.citationStartPage | 1 | por |
oaire.citationEndPage | 15 | por |
oaire.citationIssue | 6 | por |
oaire.citationVolume | 13 | por |
dc.date.updated | 2021-03-26T14:09:30Z | - |
dc.identifier.eissn | 2072-6694 | - |
dc.identifier.doi | 10.3390/cancers13061344 | por |
dc.subject.wos | Science & Technology | por |
sdum.journal | Cancers | por |
oaire.version | VoR | por |
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cancers-13-01344-v3.pdf | 2,1 MB | Adobe PDF | Ver/Abrir |
Este trabalho está licenciado sob uma Licença Creative Commons