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Year : 2019  |  Volume : 44  |  Issue : 3  |  Page : 175-182

X-ray cross-complement 1 gene polymorphisms (Arg399Gln and Arg194Trp) in patients with acute myeloid leukemia

1 Hematology Unit, Clinical Pathology Department, Faculty of Medicine, Mansoura University (OCMU), Mansoura, Egypt
2 Medical Oncology Department, Oncology Center, Mansoura University (OCMU), Mansoura, Egypt

Correspondence Address:
Ahmed H El-Sebaie
PhD of Clinical Pathology, Lecturer of Clinical Pathology, Hematology Unit, Clinical Pathology Department, Faculty of Medicine, Mansoura University, Mansoura 35511
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ejh.ejh_22_19

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Background Acute myeloid leukemia (AML) is a clonal disorder characterized by acquisition of somatic mutations in hematopoietic progenitors leading to disruption of differentiation. X-ray cross-complement 1 (XRCC1) gene is a key component of the base excision repair pathway that may be involved in the repair of SS-DNA breaks. Polymorphisms in DNA repair genes may affect the DNA repair capacity and modulate cancer susceptibility by means of gene–environment interactions. This study aimed to evaluate the association between XRCC1 gene polymorphisms and the risk of development of AML and their impact on patients’ outcome. Materials and methods This study was conducted on 92 adult patients with AML of different FAB subtypes before induction of chemotherapy. They were selected from the Oncology Center Mansoura University, Egypt. Ninety-two healthy individuals served as a control group. Results The data obtained after the XRCC1 gene polymorphism study revealed that the Trp194Trp genotype and Trp allele showed higher frequency in AML cases compared with the control group. In addition, they were associated with a significant high risk of AML development within healthy participants (P=0.04). No significant differences were found in rs1799782 and rs25487 genotypes and alleles between cases and controls. Also, there was significant difference in overall survival in cases with XRCC1 Trp194Arg genotypes (P=0.048) and cases with Trp194Arg+ Trp194Trp (P=0.023) when compared with those with the Arg194Arg genotype. Conclusion Individuals with mutant Trp194Trp allele had a higher risk to develop AML and that the Trp194Arg+Trp194Trp genotype could predict poor prognosis in AML patients. This suggests XRCC1 polymorphism to be a novel target for new effective therapies of AML.

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