Polymorphisms of DNA repair genes are related to the pathogenesis of myelodysplastic syndrome

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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:BRCA1rs4793191,BRCA2rs9567623,RAD51rs1801320,XRCC5rs3835,XRCC6rs2267437 andLIG4rs1805388. TheG/Cheterozygote genotype of rs1801320 polymorphism was associated with a decreased chance of developing MDS (p= 0.05). Additionally, theG/Ghomozygous genotype was associated with the presence of one cytopenia in whole blood. The genotypeC/GandCG + GGof the rs2267437 polymorphism was associated with normal karyotype (p= 0.010) and bone marrow cellularity normocellular + hypercellular (p= 0.023). We found that theA/Gheterozygous genotype of the rs3835 polymorphism is associated with decreased chance of developing MDS (p< 0.001). These results support the importance ofRAD51,XRCC5andXRCC6genes polymorphisms in the maintenance of genomic stability promoting a better understanding of the genesis and etiology of MDS. Copyright © 2014 John Wiley & Sons, Ltd.

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