PNPLA3 Gene Polymorphism Increases Susceptibility to NASH in Egyptian NAFLD Patients
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- Category: Vol. 85, December 2017
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PNPLA3 Gene Polymorphism Increases Susceptibility to NASH in Egyptian NAFLD Patients, EMAN MEDHAT, YASMIN SAAD, AHMED RAMADAN, HANAN FOUAD, SHERIEF MUSA and HANY KHATAB
Abstract
Background and Aim: Non-Alcoholic Fatty Liver Disease (NAFLD) is a common cause of chronic liver injury, the spectrum of which extends from simple steatosis to Non-Alcoholic Steatohepatitis (NASH) which may progress to liver fibrosis, cirrhosis and Hepatocellular Carcinoma (HCC). Currently, there is increasing evidence that genetic factors play important roles in the pathogenesis and progression of NAFLD. Our aim is to investigate the role of Single Nucleotide Polymorphisms (SNPs) of the patatin-like phospholipase domain-containing protein 3 (PNРLАЗ) gene in susceptibility to NAFLD and disease progression to NASH among Egyptian patients.
Subjects and Methods: 30 Egyptian NAFLD patients and 20 normal control individuals were recruited and subjected to full history, clinical examination, anthropometric measures, laboratory investigations and liver biopsy. PCR-KELP was applied to detect SNPs in PNРLA3 gene. The diagnosis of NASH was determined by the NAFLD activity score (NAS) in liver histopathology.
Results: Out of the 30 patients, 20 (66.6%) were NASH and 10(33.3%) were simple steatosis. РNРLA3 rs738409 Gt1 genotype was higher in NAFLD patient than controls, 13 (43.3%) vs 2 (10%) (P-value--0.002). The GO genotype was significantly associated with histological severity of NAFLD, including steatosis and fibrosis (P-values 0.001 and 0.004 respectively). NAFLD patients were significantly higher as regards body mass index, waist circumference and liver enzymes.
Conclusion: PNPLA3 гs738409 was significantly associated with increased susceptibility to NAFLD and progression to NASH.