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Genetic variants in oxidative stress-related genes and their impact on prognosis and treatment response in chronic myeloid leukemia patients

2025-06-13Research article Open access
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datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorAlves, Raquel
dc.contributor.authorVentura, Filipa
dc.contributor.authorJorge, Joana
dc.contributor.authorMarques, Gilberto
dc.contributor.authorCoucelo, Margarida
dc.contributor.authorDiamond, Joana
dc.contributor.authorOliveiros, Bárbara
dc.contributor.authorPereira, Amélia
dc.contributor.authorFreitas-Tavares, Paulo
dc.contributor.authorAlmeida, António M.
dc.contributor.authorGonçalves, Ana Cristina
dc.contributor.authorSarmento-Ribeiro, Ana Bela
dc.date.accessioned2025-09-02T11:47:30Z
dc.date.available2025-09-02T11:47:30Z
dc.date.issued2025-06-13
dc.description.abstractChronic myeloid leukemia (CML) is a clonal myeloproliferative neoplasia characterized by the BCR::ABL1 fusion gene, which codifies the BCR-ABL protein with increased tyrosine kinase activity. Despite the clinical results for the outstanding tyrosine kinase inhibitors (TKIs), drug resistance is a problem in CML management. Genetic variants that alter redox homeostasis by changing antioxidant enzyme expression or activity may influence patient responses and could enhance patient stratification. We aimed to assess the association of SOD2, CAT GPX1, NRF2, and KEAP1 genetic variants with TKI response and disease prognosis. For this purpose, we genotyped the variants rs4880 (SOD2), rs1050450 (GPX1), rs1001179 (CAT), rs6721961, rs4893819, rs35652124, rs6706649, rs13001694 (NFE2L2), and rs113540846 (KEAP1) via PCR in 187 CML patients. Our results show that variants in genes related to oxidative stress influence the development and degree of TKI resistance (allele G and GG genotypes of GPX1 and CT genotype of NFE2L2 rs4893819), the appearance of mutations in the BCR::ABL1 gene (AG genotype of NFE2L2 rs13001694 and genetic profile GGCTTCCCGG of the NFE2L2/KEAP1 axis), disease evolution (AG genotype of SOD2 and CT genotype of NFE2L2 rs4893819), and overall survival (CC genotype of CAT and GG genotype of NFE2L2 rs13001694) of CML patients. Our study found that variants in oxidative stress-related genes impact treatment response and outcomes in CML.eng
dc.identifier.citationAlves, R., Ventura, F., Jorge, J., & Marques, G. et al. (2025). Genetic variants in oxidative stress-related genes and their impact on prognosis and treatment response in chronic myeloid leukemia patients. International Journal of Molecular Sciences, 26(12), Article 5682. https://doi.org/10.3390/ijms26125682
dc.identifier.doi10.3390/ijms26125682
dc.identifier.eid105009082670
dc.identifier.issn1661-6596
dc.identifier.otherb4f778c3-137d-41dd-a6ec-5fdf66a257f9
dc.identifier.pmcPMC12193163
dc.identifier.pmid40565143
dc.identifier.urihttp://hdl.handle.net/10400.14/54588
dc.identifier.wos001516070900001
dc.language.isoeng
dc.peerreviewedyes
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectAntioxidant defenses
dc.subjectChromic myeloid leukemia
dc.subjectGenetic variants
dc.subjectNRF2/KEAP1 pathway
dc.subjectOverall survival
dc.subjectTyrosine kinase inhibitor resistance
dc.titleGenetic variants in oxidative stress-related genes and their impact on prognosis and treatment response in chronic myeloid leukemia patientseng
dc.typeresearch article
dspace.entity.typePublication
oaire.citation.issue12
oaire.citation.titleInternational Journal of Molecular Sciences
oaire.citation.volume26
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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