Single nucleotide polymorphism in PTEN-Long gene : a risk factor in chronic myeloid leukemia
Fil: Ferri, Cristian Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico (Nordeste). Instituto de Biotecnología Misiones. Laboratorio de Biotecnología Molecular; Argentina.
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| Format: | info:eu-repo/semantics/article |
| Language: | English |
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Elsevier
2019
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| Online Access: | https://hdl.handle.net/20.500.12219/4413 |
| id |
ir-20.500.12219-4413 |
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| record_format |
dspace |
| institution |
Universidad Nacional de Misiones |
| collection |
Repositorio RIDUNaM |
| language |
English |
| topic |
Chronic myeloid leukemia BCR-ABL1 Polymorphism PTEN-Long |
| spellingShingle |
Chronic myeloid leukemia BCR-ABL1 Polymorphism PTEN-Long Ferri, Cristian Alberto Weich, Natalia Gutiérrez, Leticia Soledad De Brasi, Carlos Daniel Bengió, M. R. Zapata, Pedro Darío Fundia, Ariela Freya Larripa, Irene Beatriz Single nucleotide polymorphism in PTEN-Long gene : a risk factor in chronic myeloid leukemia |
| description |
Fil: Ferri, Cristian Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico (Nordeste). Instituto de Biotecnología Misiones. Laboratorio de Biotecnología Molecular; Argentina. |
| format |
info:eu-repo/semantics/article |
| author |
Ferri, Cristian Alberto Weich, Natalia Gutiérrez, Leticia Soledad De Brasi, Carlos Daniel Bengió, M. R. Zapata, Pedro Darío Fundia, Ariela Freya Larripa, Irene Beatriz |
| author_facet |
Ferri, Cristian Alberto Weich, Natalia Gutiérrez, Leticia Soledad De Brasi, Carlos Daniel Bengió, M. R. Zapata, Pedro Darío Fundia, Ariela Freya Larripa, Irene Beatriz |
| author_sort |
Ferri, Cristian Alberto |
| title |
Single nucleotide polymorphism in PTEN-Long gene : a risk factor in chronic myeloid leukemia |
| title_short |
Single nucleotide polymorphism in PTEN-Long gene : a risk factor in chronic myeloid leukemia |
| title_full |
Single nucleotide polymorphism in PTEN-Long gene : a risk factor in chronic myeloid leukemia |
| title_fullStr |
Single nucleotide polymorphism in PTEN-Long gene : a risk factor in chronic myeloid leukemia |
| title_full_unstemmed |
Single nucleotide polymorphism in PTEN-Long gene : a risk factor in chronic myeloid leukemia |
| title_sort |
single nucleotide polymorphism in pten-long gene : a risk factor in chronic myeloid leukemia |
| publisher |
Elsevier |
| publishDate |
2019 |
| url |
https://hdl.handle.net/20.500.12219/4413 |
| work_keys_str_mv |
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1800237295972909056 |
| spelling |
ir-20.500.12219-44132024-03-22T14:36:38Z Single nucleotide polymorphism in PTEN-Long gene : a risk factor in chronic myeloid leukemia Ferri, Cristian Alberto Weich, Natalia Gutiérrez, Leticia Soledad De Brasi, Carlos Daniel Bengió, M. R. Zapata, Pedro Darío Fundia, Ariela Freya Larripa, Irene Beatriz Chronic myeloid leukemia BCR-ABL1 Polymorphism PTEN-Long Fil: Ferri, Cristian Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico (Nordeste). Instituto de Biotecnología Misiones. Laboratorio de Biotecnología Molecular; Argentina. Fil: Ferri, Cristian Alberto. Universidad Nacional de Misiones. Facultad de Ciencias Exactas Químicas y Naturales. Instituto Biotecnología Misiones. Laboratorio de Biotecnología Molecular; Argentina. Fil: Weich, Natalia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Laboratorio de Genética Hematológica; Argentina. Fil: Weich, Natalia. Academia Nacional de Medicina (Buenos Aires). Instituto de Medicina Experimental. Laboratorio de Genética Hematológica; Argentina. Fil: Weich, Natalia. Universidad de Miami. Facultad de Medicina Leonard M. Miller; Estados Unidos. Fil: Gutiérrez, Leticia Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Laboratorio de Genética Hematológica; Argentina. Fil: Gutiérrez, Leticia Soledad. Academia Nacional de Medicina (Buenos Aires). Instituto de Medicina Experimental. Laboratorio de Genética Hematológica; Argentina. Fil: De Brasi, Carlos Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Laboratorio de Genética Hematológica; Argentina. Fil: De Brasi, Carlos Daniel. Academia Nacional de Medicina (Buenos Aires). Instituto de Medicina Experimental. Laboratorio de Genética Hematológica; Argentina. Fil: Bengió, M. R. Academia Nacional de Medicina (Buenos Aires). Instituto de Investigaciones Hematológicas "Mariano R. Castex". Departamento de Hemato-oncología; Argentina. Fil: Zapata, Pedro Darío. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico (Nordeste). Instituto de Biotecnología Misiones. Laboratorio de Biotecnología Molecular; Argentina. Fil: Zapata, Pedro Darío. Universidad Nacional de Misiones. Facultad de Ciencias Exactas Químicas y Naturales. Instituto Biotecnología Misiones. Laboratorio de Biotecnología Molecular; Argentina. Fil: Fundia, Ariela Freya. Academia Nacional de Medicina (Buenos Aires). Instituto de Investigaciones Hematológicas "Mariano R. Castex". Departamento de Hemato-oncología; Argentina. Fil: Larripa, Irene Beatriz. Academia Nacional de Medicina (Buenos Aires). Instituto de Investigaciones Hematológicas "Mariano R. Castex". Departamento de Hemato-oncología; Argentina. The BCR-ABL1 oncogene is associated with chronic myeloid leukemia (CML) pathogenesis, but the molecular mechanisms that initiate leukemogenesis are still unclear. Cancer pathogenesis has been associated with genetic alterations that may lead to inactivation of tumor suppressor genes. Phosphatase and tensin homolog (PTEN) is frequently deleted or inactivated in various tumors. A recently discovered variant of PTEN, PTEN-Long (PTEN-L), results from an alternative translation initiation site located upstream of the canonic AUG and generates a protein of 576 amino acids instead the expected protein of 403 amino acids. A 16 bp perfect palindromic motif centered on the PTEN-L CUG 513 start codon is required for translation initiation. A single nucleotide polymorphism (SNP) of PTEN-L gene rs12573787 is located on the first exon respect to the CUG initiation site. In this case-control study we evaluated the association of genetic variants in PTEN-L with CML risk and therapy response in the Argentine population. The allele A of SNP rs12573787 was found to be associated with CML risk OR (95% CI) 1.71 (1.11–2.63) p = 0.016, which resulted consistent by multivariate analysis adjusted by gender and age. According to previous evidence that CML is more frequent in males, we found that the genetic risk of CML was confined to this gender. Unexpectedly, we also found this association confined to CML patients older than 45 years old. To our knowledge, this is the first time that PTEN-L rs1257378 was studied in CML suggesting that the variant A allele is a risk factor for CML development but, no association with the failure to TKIs treatment was found. 2019-04-30 info:eu-repo/semantics/article info:ar-repo/semantics/artículo info:eu-repo/semantics/publishedVersion https://hdl.handle.net/20.500.12219/4413 eng info:eu-repo/semantics/altIdentifier/urn/https://www.sciencedirect.com/science/article/abs/pii/S0378111919300976 info:eu-repo/semantics/openAccess application/pdf application/pdf 493.8 KB Elsevier |