الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
Background: Non-alcoholic fatty liver disease (NAFLD) represents a spectrum of progressive liver disease characterized by increased hepatic triglyceride content (HTGC) in the absence of excess alcohol consumption. NAFLD includes simple steatosis, non-alcoholic steatohepatitis, fibrosis and ultimately cirrhosis, and is strongly associated with features of the metabolic syndrome (obesity, insulin resistance/type 2 diabetes mellitus and dyslipidemia).
Objective: To study the role of PNPLA3 as non-invasive biomarker in diagnosis of NASH.
Patients and Methods: Single Centre randomized case control clinical study This study was conducted for patients attended Bariatric surgery unit at Ain-Shams University Hospital. Literature review designed and data collection started in October 2019 up to March 2021. This study performed on 50 Egyptian patients, proven NAFLD by histology, patients were biopsied during a bariatric Surgery at Ain-Shams University Hospital after written consent were obtained, and 25 healthy control Subjects were selected randomly after meted the criteria.
Results: The G risk allele shows higher level of ALT and statistically significant (p<0.028*) but not significant with AST (p<0.243), significant with triglycerides (p<0.013*), with total cholesterol (p<0.010*) and BMI (p<0.016*) independent of the others parameter compared to wild type C allele. To greater number of G risk allele more higher scoring of NAS score (p<0.002*) {table 12} and increasing likelihood of advance fibrosis stage (p<0.046*). By dominant analysis 54.77% of the steatohepatitis patients carrying the risk allele G while steatosis group only 22.42% carrying the risk allele the risk allele G had 4.19 fold more risk of having sheatohepatitis (NASH) than the wild type C allele among the studied NAFLD patients group (odds ratio 4.19, CI 95% 1.762-9.962, p<0.001*).
Conclusion: We demonstrated for the first time risk of PNPLA3 rs738409 polymorphism in Egyptian. Homozygous and heterozygous Risk allele GG, CG had 4.37 fold risk of developing NAFLD than the homozygous wild type CC. by dominant analysis the risk G allele had 3.45 fold more risk of having NAFLD and had 4.19 fold more risk of having sheatohepatitis (NASH) than the wild type C allele in Egyptian. PNPLA3 is a promised non-invasive biomarker in the diagnosis of NASH and its validation through more researches linked with environmental and hereditary factors will lead to definitive tools for non-invasive diagnosis of non-alcoholic steatohepatits in the near future.