| Autor: |
Daniela de Paula Borges, Rinna Maria Arruda Rodrigues dos Santos, Elvira Rodrigues Pereira Velloso, Howard Lopes Ribeiro Junior, Irene Beatriz Larripa, Maria Fernanda Camacho, Jacqueline González, Leandro Daniel Burgos Pratx, Sílvia Maria Meira Magalhães, Carolina Bárbara Belli, Ronald Feitosa Pinheiro |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
Hematology, Transfusion and Cell Therapy, Vol 45, Iss 2, Pp 147-153 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2531-1379 |
| DOI: |
10.1016/j.htct.2021.08.002 |
| Popis: |
Nucleotide excision repair pathway (NER) is an essential mechanism for single-strand breaks (SSB) repair while xeroderma pigmentosum family (XPA to XPG) is the most important system to NER. Myelodysplastic syndrome (MDS) is a heterogeneous hematological cancer characterized by cytopenias and risk of acute myeloid leukemia (AML) transformation. MDS pathogenesis has been associated with problems of DNA repair system. This report aimed to evaluate NER polymorphisms (XPA rs1800975, XPC rs2228000, XPD rs1799793 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-qPCR using TaqMan SNP Genotyping Assay. Regarding rs1799793 polymorphism of XPD for Brazilian population, the heterozygous genotype AG presented a high odds ratio (OR) to have a normal 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, the homozygous mutant AA genotype of rs1800975 polymorphism of XPA was associated with an increased odd to have hemoglobin levels below 8g/dL (p = 0.013, OR=10.000) while for the rs1799793 polymorphism of XPD, the heterozygous AG genotype decreased OR to be classified as good (p |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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