• Polymorphisms of xeroderma pigmentosum genes ( XPC, XPD and XPG) and susceptibility to acute leukemia among a sample of Egyptian patients

Citation:
Elmahgoub, I. R., H. M. Gouda, M. A. Samra, I. A. Shaheen, and A. H. ElMaraashly, "• Polymorphisms of xeroderma pigmentosum genes ( XPC, XPD and XPG) and susceptibility to acute leukemia among a sample of Egyptian patients", Journal of Hematopathology: Journal of Hematopathology, 2017.

Abstract:

DNA repair systems play a key role in protecting the DNA from damage caused by different endogenous and environmental factors. Genetic polymorphisms in DNA repair genes may lead to increased cancer susceptibility including leukemia. Due to different environmental genetic interaction among each population, the aim of the current study was to assess the association between three genetic polymorphisms of xeroderma pigmentosum complementation group: XPD (rs13181), XPC (rs2228001), XPG (rs17655) and the susceptibility to Acute Leukemia in Egypt. The present study included 50 patients with acute leukemia, in addition to 100 normal volunteers as control group. Genotyping for the genes was done by PCR- RFLP technique. The study revealed that patients homovariant for XPD had four fold increased risk of developing AML (OR=4.4, p=0.025) either alone or with variant genotypes of XPC and XPG. No statistically significant association was found between neither individual nor combined polymorphisms and disease risk of ALL in this study. Determination of XPD polymorphism could be considered as molecular markers associated with susceptibility to develop AML.

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