title: Polymorphisms of DNA repair genes are related to the pathogenesis of myelodysplastic syndrome.
abstract: Some studies show that alterations in DNA repair genes polymorphisms are associated with the pathogenesis and susceptibility of Myelodysplastic Syndrome (MDS). We genotyped 60 MDS patients for six DNA repair gene polymorphisms: BRCA1 rs4793191, BRCA2 rs9567623, RAD51 rs1801320, XRCC5 rs3835, XRCC6 rs2267437 and LIG4 rs1805388. The G/C heterozygote genotype of rs1801320 polymorphism was associated with a decreased chance of developing MDS (p = 0.05). Additionally, the G/G homozygous genotype was associated with the presence of one cytopenia in whole blood. The genotype C/G and CG + GG of the rs2267437 polymorphism was associated with normal karyotype (p = 0.010) and bone marrow cellularity normocellular + hypercellular (p = 0.023). We found that the A/G heterozygous genotype of the rs3835 polymorphism is associated with decreased chance of developing MDS (p < 0.001). These results support the importance of RAD51, XRCC5 and XRCC6 genes polymorphisms in the maintenance of genomic stability promoting a better understanding of the genesis and etiology of MDS.
authors.affiliation: Post-Graduate Program in Medical Science, Federal University of Ceara, Fortaleza, Ceara, Brazil.|Cancer Cytogenomic Laboratory, Federal University of Ceara, Fortaleza, Ceara, Brazil.
authors.forename: Howard Lopes
authors.initials: HL
authors.lastname: Ribeiro
authors.affiliation: Cancer Cytogenomic Laboratory, Federal University of Ceara, Fortaleza, Ceara, Brazil.
authors.forename: Roberta Taiane Germano
authors.initials: RT
authors.lastname: de Oliveira
authors.affiliation: Post-Graduate Program in Medical Science, Federal University of Ceara, Fortaleza, Ceara, Brazil.|Cancer Cytogenomic Laboratory, Federal University of Ceara, Fortaleza, Ceara, Brazil.
authors.forename: Allan Rodrigo Soares
authors.initials: AR
authors.lastname: Maia
authors.affiliation: Post-Graduate Program in Medical Science, Federal University of Ceara, Fortaleza, Ceara, Brazil.|Cancer Cytogenomic Laboratory, Federal University of Ceara, Fortaleza, Ceara, Brazil.
authors.forename: Luiz Ivando
authors.initials: LI
authors.lastname: Pires Ferreira Filho
authors.affiliation: Post-Graduate Program in Medical Science, Federal University of Ceara, Fortaleza, Ceara, Brazil.|Cancer Cytogenomic Laboratory, Federal University of Ceara, Fortaleza, Ceara, Brazil.
authors.forename: Juliana Cordeiro
authors.initials: JC
authors.lastname: de Sousa
authors.affiliation: Cancer Cytogenomic Laboratory, Federal University of Ceara, Fortaleza, Ceara, Brazil.
authors.forename: Fabiola Fernandes
authors.initials: FF
authors.lastname: Heredia
authors.affiliation: Post-Graduate Program in Medical Science, Federal University of Ceara, Fortaleza, Ceara, Brazil.|Cancer Cytogenomic Laboratory, Federal University of Ceara, Fortaleza, Ceara, Brazil.
authors.forename: Silvia Maria Meira
authors.initials: SM
authors.lastname: Magalhães
authors.affiliation: Post-Graduate Program in Medical Science, Federal University of Ceara, Fortaleza, Ceara, Brazil.|Post-Graduate Program of Pathology, Federal University of Ceara, Fortaleza, Ceara, Brazil.|Cancer Cytogenomic Laboratory, Federal University of Ceara, Fortaleza, Ceara, Brazil.
authors.forename: Ronald Feitosa
authors.initials: RF
authors.lastname: Pinheiro
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D004260:DNA Repair / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D012307:Risk Factors
keywords: DNA repair; cytogenetics; homologous recombination mechanism; myelodysplastic syndrome; non-homologous end joining mechanism