Genetic mutation study among hepatocellular carcinoma patients (Case- control) Study

Abstract

Hepatocellular carcinoma (HCC) is one of the most common malignant tumors woddwide. Th-e aim of the-present study-was to assess-- _ the :•assoGiation of- mutation specific genes: cytochrome P450 Ii\i• -• ' - - - - • (CYPi AJ ), cyt hrome P450 206 (CYP206), micro•so al epoxide hydrola e' - (EPHX) and pa:racixonase (PON l) mid envirmimental exposures on the risk of HCC in Egypt. A case,control study was conducted on 459 subjects with confirmed HCC recruited from the National_ Cancer Institute, _Cairo University, Egypt, and 634 cpntrols recruited from orthopedic depai:tin nt; Cairo University Hospital, Egypt and_ from two villages in Menoufiya governorate. Patients who agreed to participate signed a_consent .form, answered a questionnaire and gave a blood sample for hepatitis virus and genetic testing. PON I polymorphism was inversely related to HCC, OR was 0.7 (95% CI: 0.5-l.l ). EPHXI Slow activity was significantly associated•with HCC (OR= 1.5, 95% Cl: l.l-2.2) compared to high metabolizers after adjustment with age, sex, current HCV and current HBV infection. CYPI A I mutation was not associated with HCC in the present study (OR= 2.0, 95% CI: 0.4-1 0.2). CYP206 extensive metabolizers was associated with HCC (OR= 1.8, 95% CI: 1.1-3.0) compared to poor metabolizers. No significant interaction between smoking or pesticides exposure and the studied genes. As expected, the strongest risk factors for HCC in this study were HCV RNA (OR= 11-13) and current HBV infection (OR= 6-9). This study therefore suggests that mutation in the studies genes are additive risk factors to current