Associations of DNA base excision repair OGG1 and XRCC1 gene polymorphism in myelodysplastic syndrome

Abstract

Introduction: Base excision repair (BER) is mainly responsible for the correction of small base changes of DNA damage. BER pathway involved many enzymes including OGG1 and XRCC1. The defective DNA repair is associated with an increased risk of various cancers including hematologic malignancies-leukemia and myelodysplastic syndrome (MDS). Purpose: This study was to evaluate the impact of polymorphisms in genes encoding two proteins of BER system: OGG1-rs1052133 and XRCC1-rs25487 in MDS and healthy population. Materials and methods: In this study, we recruited 20 health control group [median 47.9 years, 9 MDS subjects [median 46.2 years] were included in this study. Genotyping was carried out by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results: The frequencies of genotypes of BER gene polymorphism. The GG genotype of the XRCC1 gene was associated with an increased risk of MDS patients (frequency of 60%). Mutant GG genotype determined MDS patients of more than 62.5% blast cells. Conclusion: This study is the first to analyze XRCC1, OGG1 SNPs and their associated risk of MDS in Mongolian samples (p=0.04). To fully understand the role of DNA damage and DNA repair in the carcinogenesis, prospective studies are needed and additional gene should be analyzed.