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Title in Portuguese: New polymorphisms of Xeroderma Pigmentosum DNA repair genes in myelodysplastic syndrome
Author: Santiago, Sabrina Pinheiro
Ribeiro Junior, Howard Lopes
Sousa, Juliana Cordeiro de
Borges, Daniela de Paula
Oliveira, Roberta Taiane Germano de
Farias, Izabelle Rocha
Costa, Marília Braga
Maia, Allan Rodrigo Soares
Ito, Mayumi da Nóbrega
Magalhães, Silvia Maria Meira
Pinheiro, Ronald Feitosa
Keywords: Ictiose
Issue Date: Jul-2017
Publisher: Leukemia Research
Citation: SANTIAGO, S. P. et al. New polymorphisms of Xeroderma Pigmentosum DNA repair genes in myelodysplastic syndrome. Leukemia Research, v. 58, p. 73-82, jul. 2017.
Abstract: The association between Xeroderma Pigmentosum DNA repair genes ( XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. To assess the functional role between these polymorphisms and MDS, we evaluated 189 sam- ples stratified in two groups: 95 bone marrow samples from MDS patients and 94 from healthy elderly volunteers used as controls. Genotypes for all polymorphisms were identified in DNA samples in an allelic discrimination experiment by real-time polymerase chain reaction (qPCR). We also studied the mRNA expression of XPA and XPC genes to evaluate if its polymorphisms were functional in 53 RNAm MDS patients by qPCR methodologies. To the rs2228000 polymorphism, the CT and TT polymorphic genotype were associated with increased odds ratio (OR) of more profound cytopenia (hemoglobin and neutrophils count). To the rs1799793 polymorphism, we found that the GG homozygous wild-type geno- type was associated with a decreased chance of developing MDS. We observed low expression of XPA in younger patients, in hypoplastic MDS and patients with abnormal karyotype when presented AG or AA polymorphic genotypes. We also found that there was a statistically significant interaction between the presence of micromegakaryocyte on down regulation of XPC regarding the CT heterozygous genotype of the rs1800975 polymorphism. Our results suggest that new functional polymorphisms of Xeroderma Pigmentosum DNA repair genes in MDS are related to its pathogenesis and prognosis.
metadata.dc.type: Artigo de Periódico
ISSN: 0145-2126
Appears in Collections:DMC - Artigos publicados em revistas científicas

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