Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome

Autores
Borges, Daniela de Paula; Arruda Rodrigues dos Santos, Rinna Maria; Rodrigues Pereira Velloso, Elvira; Lopes Ribeiro Junior, Howard; Larripa, Irene Beatriz; Camacho, Maria Fernanda; González, Jacqueline; Burgos Pratx, Leandro Daniel; Meira Magalhães, Sílvia Maria; Belli, Carolina Bárbara; Feitosa Pinheiro, Ronald
Año de publicación
2023
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Nucleotide excision repair pathway (NER) is an essential mechanism for single-strandbreaks (SSB) repair while xeroderma pigmentosum family (XPA to XPG) is the most important system to NER. Myelodysplastic syndrome (MDS) is a heterogeneous hematologicalcancer characterized by cytopenias and risk of acute myeloid leukemia (AML) transformation. MDS pathogenesis has been associated with problems of DNA repair system. Thisreport aimed to evaluate NER polymorphisms (XPA rs1800975, XPC rs2228000, XPDrs1799793 and XPF rs1800067) in 269 MDS patients of different populations in Latin America(173 Brazilian and 96 Argentinean). Genotypes were identified in DNA samples by RT-qPCRusing TaqMan SNP Genotyping Assay. Regarding rs1799793 polymorphism of XPD for Brazilian population, the heterozygous genotype AG presented a high odds ratio (OR) to have anormal karyotype (p = 0.012, OR=3.000) and the mutant homozygous genotype AA was associated to a high OR of AML transformation (p = 0.034, OR=7.4). In Argentine population, thehomozygous mutant AA genotype of rs1800975 polymorphism of XPA was associated withan increased odd to have hemoglobin levels below 8g/dL (p = 0.013, OR=10.000) while for thers1799793 polymorphism of XPD, the heterozygous AG genotype decreased OR to be classified as good (p < 0.001, OR=9.05 £ 1010), and intermediate (p < 0.001, OR=3.08 £ 1010),according to Revised-International Prognostic Scoring System. Regarding the rs1800067 polymorphisms of XPF, the homozygous mutant AA genotype showed a decreased OR to beclassified as good (p < 0.001, OR=4.03 £ 1013) and intermediate (p < 0.001, OR=2.54 £ 1013).Our report reinforces the heterogeneity of MDS and demonstrates the importance of ethnicdifferences and regional influences in pathogenesis and prognosis of MDS.
Fil: Borges, Daniela de Paula. Universidade Federal Do Ceara; Brasil
Fil: Arruda Rodrigues dos Santos, Rinna Maria. Universidade Federal Do Ceara; Brasil
Fil: Rodrigues Pereira Velloso, Elvira. Universidade de Sao Paulo; Brasil
Fil: Lopes Ribeiro Junior, Howard. Universidade Federal Do Ceara; Brasil
Fil: Larripa, Irene Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Camacho, Maria Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: González, Jacqueline. Gobierno de la Ciudad Autónoma de Buenos Aires. Hospital General de Agudos Carlos Durand; Argentina
Fil: Burgos Pratx, Leandro Daniel. Hospital Italiano; Argentina
Fil: Meira Magalhães, Sílvia Maria. Universidade Federal Do Ceara; Brasil
Fil: Belli, Carolina Bárbara. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Feitosa Pinheiro, Ronald. Barretos Cancer Hospital; Brasil
Materia
Myelodysplastic syndrome
DNA damage
Functional polymorphism
DNA repair
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/255741
Acceder
id CONICETDig_2f31cd1045c46fb53258a897742b8301
oai_identifier_str oai:ri.conicet.gov.ar:11336/255741
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic SyndromeBorges, Daniela de PaulaArruda Rodrigues dos Santos, Rinna MariaRodrigues Pereira Velloso, ElviraLopes Ribeiro Junior, HowardLarripa, Irene BeatrizCamacho, Maria FernandaGonzález, JacquelineBurgos Pratx, Leandro DanielMeira Magalhães, Sílvia MariaBelli, Carolina BárbaraFeitosa Pinheiro, RonaldMyelodysplastic syndromeDNA damageFunctional polymorphismDNA repairhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Nucleotide excision repair pathway (NER) is an essential mechanism for single-strandbreaks (SSB) repair while xeroderma pigmentosum family (XPA to XPG) is the most important system to NER. Myelodysplastic syndrome (MDS) is a heterogeneous hematologicalcancer characterized by cytopenias and risk of acute myeloid leukemia (AML) transformation. MDS pathogenesis has been associated with problems of DNA repair system. Thisreport aimed to evaluate NER polymorphisms (XPA rs1800975, XPC rs2228000, XPDrs1799793 and XPF rs1800067) in 269 MDS patients of different populations in Latin America(173 Brazilian and 96 Argentinean). Genotypes were identified in DNA samples by RT-qPCRusing TaqMan SNP Genotyping Assay. Regarding rs1799793 polymorphism of XPD for Brazilian population, the heterozygous genotype AG presented a high odds ratio (OR) to have anormal karyotype (p = 0.012, OR=3.000) and the mutant homozygous genotype AA was associated to a high OR of AML transformation (p = 0.034, OR=7.4). In Argentine population, thehomozygous mutant AA genotype of rs1800975 polymorphism of XPA was associated withan increased odd to have hemoglobin levels below 8g/dL (p = 0.013, OR=10.000) while for thers1799793 polymorphism of XPD, the heterozygous AG genotype decreased OR to be classified as good (p < 0.001, OR=9.05 £ 1010), and intermediate (p < 0.001, OR=3.08 £ 1010),according to Revised-International Prognostic Scoring System. Regarding the rs1800067 polymorphisms of XPF, the homozygous mutant AA genotype showed a decreased OR to beclassified as good (p < 0.001, OR=4.03 £ 1013) and intermediate (p < 0.001, OR=2.54 £ 1013).Our report reinforces the heterogeneity of MDS and demonstrates the importance of ethnicdifferences and regional influences in pathogenesis and prognosis of MDS.Fil: Borges, Daniela de Paula. Universidade Federal Do Ceara; BrasilFil: Arruda Rodrigues dos Santos, Rinna Maria. Universidade Federal Do Ceara; BrasilFil: Rodrigues Pereira Velloso, Elvira. Universidade de Sao Paulo; BrasilFil: Lopes Ribeiro Junior, Howard. Universidade Federal Do Ceara; BrasilFil: Larripa, Irene Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Camacho, Maria Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: González, Jacqueline. Gobierno de la Ciudad Autónoma de Buenos Aires. Hospital General de Agudos Carlos Durand; ArgentinaFil: Burgos Pratx, Leandro Daniel. Hospital Italiano; ArgentinaFil: Meira Magalhães, Sílvia Maria. Universidade Federal Do Ceara; BrasilFil: Belli, Carolina Bárbara. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Feitosa Pinheiro, Ronald. Barretos Cancer Hospital; BrasilElsevier2023-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/255741Borges, Daniela de Paula; Arruda Rodrigues dos Santos, Rinna Maria; Rodrigues Pereira Velloso, Elvira; Lopes Ribeiro Junior, Howard; Larripa, Irene Beatriz; et al.; Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome; Elsevier; Hematology, Transfusion and Cell Therapy; 45; 2; 4-2023; 147-1532531-1379CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://linkinghub.elsevier.com/retrieve/pii/S253113792100119Xinfo:eu-repo/semantics/altIdentifier/doi/10.1016/j.htct.2021.08.002info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:52:32Zoai:ri.conicet.gov.ar:11336/255741instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 09:52:33.041CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome
title Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome
spellingShingle Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome
Borges, Daniela de Paula
Myelodysplastic syndrome
DNA damage
Functional polymorphism
DNA repair
title_short Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome
title_full Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome
title_fullStr Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome
title_full_unstemmed Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome
title_sort Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome
dc.creator.none.fl_str_mv Borges, Daniela de Paula
Arruda Rodrigues dos Santos, Rinna Maria
Rodrigues Pereira Velloso, Elvira
Lopes Ribeiro Junior, Howard
Larripa, Irene Beatriz
Camacho, Maria Fernanda
González, Jacqueline
Burgos Pratx, Leandro Daniel
Meira Magalhães, Sílvia Maria
Belli, Carolina Bárbara
Feitosa Pinheiro, Ronald
author Borges, Daniela de Paula
author_facet Borges, Daniela de Paula
Arruda Rodrigues dos Santos, Rinna Maria
Rodrigues Pereira Velloso, Elvira
Lopes Ribeiro Junior, Howard
Larripa, Irene Beatriz
Camacho, Maria Fernanda
González, Jacqueline
Burgos Pratx, Leandro Daniel
Meira Magalhães, Sílvia Maria
Belli, Carolina Bárbara
Feitosa Pinheiro, Ronald
author_role author
author2 Arruda Rodrigues dos Santos, Rinna Maria
Rodrigues Pereira Velloso, Elvira
Lopes Ribeiro Junior, Howard
Larripa, Irene Beatriz
Camacho, Maria Fernanda
González, Jacqueline
Burgos Pratx, Leandro Daniel
Meira Magalhães, Sílvia Maria
Belli, Carolina Bárbara
Feitosa Pinheiro, Ronald
author2_role author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Myelodysplastic syndrome
DNA damage
Functional polymorphism
DNA repair
topic Myelodysplastic syndrome
DNA damage
Functional polymorphism
DNA repair
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Nucleotide excision repair pathway (NER) is an essential mechanism for single-strandbreaks (SSB) repair while xeroderma pigmentosum family (XPA to XPG) is the most important system to NER. Myelodysplastic syndrome (MDS) is a heterogeneous hematologicalcancer characterized by cytopenias and risk of acute myeloid leukemia (AML) transformation. MDS pathogenesis has been associated with problems of DNA repair system. Thisreport aimed to evaluate NER polymorphisms (XPA rs1800975, XPC rs2228000, XPDrs1799793 and XPF rs1800067) in 269 MDS patients of different populations in Latin America(173 Brazilian and 96 Argentinean). Genotypes were identified in DNA samples by RT-qPCRusing TaqMan SNP Genotyping Assay. Regarding rs1799793 polymorphism of XPD for Brazilian population, the heterozygous genotype AG presented a high odds ratio (OR) to have anormal karyotype (p = 0.012, OR=3.000) and the mutant homozygous genotype AA was associated to a high OR of AML transformation (p = 0.034, OR=7.4). In Argentine population, thehomozygous mutant AA genotype of rs1800975 polymorphism of XPA was associated withan increased odd to have hemoglobin levels below 8g/dL (p = 0.013, OR=10.000) while for thers1799793 polymorphism of XPD, the heterozygous AG genotype decreased OR to be classified as good (p < 0.001, OR=9.05 £ 1010), and intermediate (p < 0.001, OR=3.08 £ 1010),according to Revised-International Prognostic Scoring System. Regarding the rs1800067 polymorphisms of XPF, the homozygous mutant AA genotype showed a decreased OR to beclassified as good (p < 0.001, OR=4.03 £ 1013) and intermediate (p < 0.001, OR=2.54 £ 1013).Our report reinforces the heterogeneity of MDS and demonstrates the importance of ethnicdifferences and regional influences in pathogenesis and prognosis of MDS.
Fil: Borges, Daniela de Paula. Universidade Federal Do Ceara; Brasil
Fil: Arruda Rodrigues dos Santos, Rinna Maria. Universidade Federal Do Ceara; Brasil
Fil: Rodrigues Pereira Velloso, Elvira. Universidade de Sao Paulo; Brasil
Fil: Lopes Ribeiro Junior, Howard. Universidade Federal Do Ceara; Brasil
Fil: Larripa, Irene Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Camacho, Maria Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: González, Jacqueline. Gobierno de la Ciudad Autónoma de Buenos Aires. Hospital General de Agudos Carlos Durand; Argentina
Fil: Burgos Pratx, Leandro Daniel. Hospital Italiano; Argentina
Fil: Meira Magalhães, Sílvia Maria. Universidade Federal Do Ceara; Brasil
Fil: Belli, Carolina Bárbara. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Feitosa Pinheiro, Ronald. Barretos Cancer Hospital; Brasil
description Nucleotide excision repair pathway (NER) is an essential mechanism for single-strandbreaks (SSB) repair while xeroderma pigmentosum family (XPA to XPG) is the most important system to NER. Myelodysplastic syndrome (MDS) is a heterogeneous hematologicalcancer characterized by cytopenias and risk of acute myeloid leukemia (AML) transformation. MDS pathogenesis has been associated with problems of DNA repair system. Thisreport aimed to evaluate NER polymorphisms (XPA rs1800975, XPC rs2228000, XPDrs1799793 and XPF rs1800067) in 269 MDS patients of different populations in Latin America(173 Brazilian and 96 Argentinean). Genotypes were identified in DNA samples by RT-qPCRusing TaqMan SNP Genotyping Assay. Regarding rs1799793 polymorphism of XPD for Brazilian population, the heterozygous genotype AG presented a high odds ratio (OR) to have anormal karyotype (p = 0.012, OR=3.000) and the mutant homozygous genotype AA was associated to a high OR of AML transformation (p = 0.034, OR=7.4). In Argentine population, thehomozygous mutant AA genotype of rs1800975 polymorphism of XPA was associated withan increased odd to have hemoglobin levels below 8g/dL (p = 0.013, OR=10.000) while for thers1799793 polymorphism of XPD, the heterozygous AG genotype decreased OR to be classified as good (p < 0.001, OR=9.05 £ 1010), and intermediate (p < 0.001, OR=3.08 £ 1010),according to Revised-International Prognostic Scoring System. Regarding the rs1800067 polymorphisms of XPF, the homozygous mutant AA genotype showed a decreased OR to beclassified as good (p < 0.001, OR=4.03 £ 1013) and intermediate (p < 0.001, OR=2.54 £ 1013).Our report reinforces the heterogeneity of MDS and demonstrates the importance of ethnicdifferences and regional influences in pathogenesis and prognosis of MDS.
publishDate 2023
dc.date.none.fl_str_mv 2023-04
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/255741
Borges, Daniela de Paula; Arruda Rodrigues dos Santos, Rinna Maria; Rodrigues Pereira Velloso, Elvira; Lopes Ribeiro Junior, Howard; Larripa, Irene Beatriz; et al.; Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome; Elsevier; Hematology, Transfusion and Cell Therapy; 45; 2; 4-2023; 147-153
2531-1379
CONICET Digital
CONICET
url http://hdl.handle.net/11336/255741
identifier_str_mv Borges, Daniela de Paula; Arruda Rodrigues dos Santos, Rinna Maria; Rodrigues Pereira Velloso, Elvira; Lopes Ribeiro Junior, Howard; Larripa, Irene Beatriz; et al.; Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome; Elsevier; Hematology, Transfusion and Cell Therapy; 45; 2; 4-2023; 147-153
2531-1379
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://linkinghub.elsevier.com/retrieve/pii/S253113792100119X
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.htct.2021.08.002
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.13397

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