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Abstract
Background: Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver injury in many countries around the world. The histological changes range over a wide spectrum, extending from simple steatosis, which is generally progressive, to non alcoholic steatohepatitis (NASH) which may progress to liver fibrosis, liver cirrhosis, liver cell failure, and sometimes even hepatocellular carcinoma. Liver biopsy is recommended as a gold standard method for the diagnosis and staging of steatosis and fibrosis, and for detecting inflammation in patients with NAFLD. Patatin like phosphlipase and tumor necrosis factor genes (PNPLA3&TNF) plays a key role in modulating metabolism of hepatic triglycerides and consequently magnitude of NAFLD and progression from simple steatosis to NASH with fibrosis. Objectives: To study the effect of Single nucleotide polymorphisms (SNPs) in PNPLA3, and TNF genes on susceptibility to NAFLD and disease progression. Results: There is a definitive association between heterozygous and the non- wild homozygous polymorphisms of Rs738409 PNPLA3, and Rs361525 TNF genes and NAFLD. In NAFLD patients subgroups; the GG genotype of PNPLA3 gene was higher in NASH patient’s subgroup while the AA genotype of Rs361525 TNF gene was higher in patients than controls, but we didn{u2019}t reach any significant results in-between the NAFLD patient’s subgroups regarding TNF gene. There were a significant difference between NAFLD patients and normal control participants regarding anthropometric measurements, liver enzymes (ALT, AST and GGT), fasting blood sugar and total lipid profile. Conclusion: There was an association between polymorphisms of the studied SNPs of Rs738409 PNPLA3 gene and Rs361525 TNF gene with the incidence of NAFLD and the severity of the disease