Association of XRCC1 and APE1 DNA repair gene single nucleotide polymorphisms with hepatocellular carcinoma in Egyptians

Mourad, Shereen; Ghareeb, Nawal; El-Sayed, Kefaya; Albeltagy, Ahmed; Abo EL-Enien, Ahmed; El-Hussiny, Mona; Elhennawy, Eman

doi:10.21608/mjvh.2025.464535

Association of XRCC1 and APE1 DNA repair gene single nucleotide polymorphisms with hepatocellular carcinoma in Egyptians

Document Type : Original article

Authors

¹ Clinical pathology faculty of medicine Mansoura University

² Clinical Pathology dept., Faculty of Medicine, Mansoura Univ., Mansoura, Egypt.

³ Gastroenterology Surgery dept., Faculty of Medicine, Mansoura University, Mansoura, Egypt

10.21608/mjvh.2025.464535

Abstract

Background: Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide. Genetic polymorphisms of base excision repair genes (BER), like X-Ray repair Cross Complementing group 1 (XRCC1) and AP endonuclease 1 (APE 1), could influence the repair capacity of DNA and elevate carcinogenesis risk. The current study aimed to investigate the association of these variants with increased risk of HCC and their potential use as noninvasive biomar-kers of HCC in Egyptian population. Subjects and methods: APEX1 Asp148Glu and the XRCC1 Gln399Arg genotyping was performed by PCR-RFLP on blood and tissue samples from 100 HCC patients who underwent surgical resection of hepatic lesions and blood samples from 100 healthy indi-viduals. Results: Individuals with the XRCC1 Gln399Arg (Gln/Gln) genotype had 31.8-fold increased risk of developing HCC (OR=31.8, p<0.001), while XRCC1 Gln399Arg (Arg/ Gln+ Gln/Gln) genotype carriers demonstrated a greater risk with a 62.7-fold increase (OR= 62.7, p<0.001). Additionally, participants having APEX1 Asp148Glu (Glu/Glu) genotype exhibited a 33.77- fold higher risk of HCC (OR=33.77, p<0.001) and those with APEX1 Asp148Glu (Asp/Glu+Glu/ Glu) showed 40.86-fold increased risk (OR=40.86; P < 0.01). There was an agreement of XRCC1 and APEX1 genotyping results between peripheral and HCC tissue samples in the HCC studied group. Conclusion: The XRCC p. Gln399Arg and APEX1 p. Asp148Glu polymorphisms may serve as genetic risk factors for developing HCC in Egyptians. They could also be utilized as noninvasive molecular markers for HCC in this population.