Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Background: Cytokine genes polymorphisms have been found to play multiple roles in various diseases. However, studies focused on its involvement in hepatocellular carcinoma (HCC) remains controversial.Aim of the work: to evaluate the association of gene polymorphisms of the SNP of TNF-Ü gene -238G>A and IL-18 gene-607C>A with the development of hepatocellular carcinoma among Egyptian patients. Subjects and Methods: This study was conducted on a total number of 150 subjects, they were divided into 2 groups, Group (A) Included 80 patients with hepatocellular carcinoma diagnosed with abdominal U/S &CT scan, Group (B) included 70 cancer-free HCV age and sex matched patients.We analyzed two SNPs (TNF-Ü-238G>A and IL-18-607C>A) by the real time polymerase chain reaction using sequence specific primers (PCR-SSP). Results: Significant higher risk of HCC was associated with: genotype IL-18{u2013}607AA P<0.001; OR: 5(2.188-11.47), allele IL-18 -607{u2044}A P = 0.001; OR: 2.1(1.32-3.3). Significant association was found between size of HFL in HCC group and different genotypes of IL18 genes (P=0.013) where 62.5% of patients with tumor size >5 cm carried the risky (AA) genotype on the other hand the SNP of TNF-Ü gene -238G>A showed no statistically significant association between the two groups. Conclusion: The SNP -607C>A in the IL18 gene was associated with increased HCC risk in Egyptian patients suggesting its use as potential diagnostic non invasive tool that allows us to identify a new group of HCC patients at earlier stage

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