Background and aim: Non-alcoholic fatty liver disease (NAFLD) is a common cause of chronic liver disease, it is used to describe a wide spectrum of fatty liver changes ranging from fatty liver and steatosis on one side, to non-alcoholic steatohepatitis (NASH) and cirrhosis on the other. NAFLD ranges from simple triglycerides accumulation in hepatocytes (simple steatosis) in the absence of inflammation to NASH (nonalcoholic steatohepatitis), liver cirrhosis and hepatocellular carcinoma. NAFLD can be associated with obesity (69-100%).
This study aimed to investigate the correlation between PNPLA3 and HSD17B13 in patients with Non-Alcoholic fatty liver disease (N AFLD). Several previous studies have reported a correlation between PNPLA3 and NAFLD, and recent publication has shown a strong association between HSD17B13 and NAFLD. Given the high prevalence of NAFLD in the population and the costly screening methods required for patients, this study aimed to determine whether there is a correlation between PNPLA3 and HSD17B13 in NAFLD patients. The results of this study could provide valuable insights into the genetic mechanisms underlying NAFLD and inform more efficient and cost-effective screening methods for patients.
Materials and Methods: Patients N.=121(Patients with Non-alcoholic Fatty Liver Disease (NAFLD) admitted in the hospital “Ospedale Maggiore di Novara”. Colleting samples are ongoing). Genomic DNA extraction from whole blood using peqGOLD Blood & Tissue DNA Mini Kit. Polymerase Chain Reaction (PCR) for both PNPLA3 and HSD17B13. Genotypes screening was performed through Restriction Fragment Length Polymerase – Polymerase Chain Reaction (RFLP-PCR) for both PNPLA3 and HSD17B13.
Results: (Research is going on. Possible finishing date is July 2023). DNA extraction has been completed successfully. PCR performed from all patient’s DNA sample. In all patients both PNPLA3 and HSD17B13 genes were present. Further research is going on.
Conclusion: We validated the genetics relationship between two variants and NAFLD progression in a cohort of Non-alcoholic fatty liver disease (NAFLD)
patients. Genetic screening is fast and cheap and could help identify a cohort of Non-alcoholic fatty liver disease (NAFLD) patients who have more risk to establish more frequent and more severe liver impairment that leads to hepatocellular carcinoma.