Abstract

Background: Ulcerative colitis (UC) is a chronic inflammatory disease of the colon characterized by excessive oxidative stress and impaired DNA repair mechanisms. This study aimed to investigate the relationship between two key base excision repair gene polymorphisms—APE1 (Asp148Glu) and hOGG1 (Ser326Cys)—and clinical features of UC, particularly disease activity.
Methods: Ninety-nine UC patients, 50 colorectal cancer (CRC) patients, and 50 age- and gender-matched healthy controls were enrolled. Peripheral blood samples were collected for DNA extraction, and genotyping was performed using real-time PCR and melting curve analysis. Clinical data, including disease duration, location, and activity based on the Truelove-Witts index, were analyzed about genetic variants.
Results: No significant differences were found in the genotype or allele frequencies of APE1 and hOGG1 between UC, CRC, and control groups. However, the hOGG1 Ser326Cys polymorphism was significantly more frequent in UC patients with severe disease activity (p = 0.034), suggesting a possible role in disease progression.
Conclusion: The hOGG1 Ser326Cys polymorphism may be associated with increased disease severity in UC and could serve as a potential prognostic biomarker. Further studies are needed to validate this finding in larger cohorts.

Key words: Ulcerative colitis, colon cancer, hOGG1 (Ser326Cys) gene polymorphism APE1 (Asp148Glu) gene polymorphism, DNA Repair, Genetic Polymorphism