الفهرس 
Aim of the WorkOnly 14 pages are availabe for public view
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Abstract
Background: Non-alcoholic fatty liver disease (NAFLD) is one of the most widespread causes of chronic hepatic injury in various countries all over the world. The histological changes extend over a broad spectrum, extending from simple steatosis, which is generally progressive, to non-alcoholic steatohepatitis (NASH) that may advance to liver fibrosis, liver cirrhosis, liver cell failure, and sometimes even hepatocellular carcinoma. Patatin like phospholipase 3 and glucokinase regulator genes (PNPLA3&GCKR) play a key role in modulating metabolism of hepatic triglycerides and consequently the magnitude of NAFLD. Objectives: To study the effect of single nucleotide polymorphism (SNP) in PNPLA3 and GCKR genes on susceptibility to NAFLD and to study the effect of these SNPs on metabolic parameters such as lipid levels and liver enzymes in groups of NAFLD Egyptian patients. Subjects and Methods: All cases (40 obese cases; 20 with NAFLD and 20 without NAFLD) and control (20 non-obese) were subjected to full history, clinical examination, anthropometric measures, liver function tests, total lipid profile, fasting and post prandial blood sugar, hepatitis markers and abdominal ultrasound. Real time PCR was applied to detect SNPs in rs738409 PNPLA3 and rs1260326 GCKR genes. Results: Homozygous GG genotype of the PNPLA3 was most frequent among patients with NAFLD (15%) as compared to controls (0%) (p=0.036). Regarding the GCKR rs1260326; the homozygous TT genotype was most frequent among patients with NAFLD (40%) as compared to controls (20%) with trend significance (p=0.083) and as compered to obese non-FL group (10%) (p=0.014). The frequency of the T allele was found to be significantly higher in NAFLD patients (62.5%) compared to obese non-FL group (42.5%) (p=0.037). There were a significant Abstract 2 difference between NAFLD patients and obese non-FL group and normal controls regarding anthropometric measurment (body mass index), liver functions (ALT, AST, T.Bil, PT and INR), triglycerides, fasting and post prandial blood sugar. Serum HDL level was significantly lower in NAFLD patiants compared to obese non-FL group. Conclusion: There was an association between PNPLA3 (rs738409) and GCKR (rs1260326) polymorphisms and susceptibility to NAFLD. NAFLD is associated with changes in some biochemical parameters. Its early assessment can help in modifying the disease course and delaying complications.