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Aim: The aim was to investigate the expression profile of miR-516a-3P and its correlation with the PNPLA3 rs738409 polymorphism in Egyptian hepatitis C virus (HCV) and hepatocellular carcinoma (HCC) patients. Materials & methods: miR-516a-3P was quantified and rs738409 was genotyped by quantitative reverse transcription PCR. Results: miR-516a-3P was significantly upregulated in HCC patients compared with HCV patients (p = 0.001). Receiver operating characteristic curve analysis confirmed that miR-516a-3P discriminates HCC from HCV (p = 0.001). A significant (p = 0.015) correlation between miR-516a-3p level and PNPLA3 rs738409 genotypes was recorded in HCV patients, yet it was not recorded in either healthy individuals or HCC patients. miR-516a-3p level was significantly (p = 0.001) higher in HCV patients carrying the rs738409 GG genotype than in those carrying the CC genotype. Conclusion: miR-516a-3P is a potential biomarker in HCC. PNPLA3 rs738409 GG carriers affect miR-516a-3P expression in HCV, and this may highlight a new mechanism in liver disease.

Objectives: To detect the correlation between the single nucleotide polymorphisms (SNPs) in MBOAT7 and PNPLA3 genes and hepatic fibrosis in hepatitis C virus (HCV) Egyptian patients, and to highlight the additive effect, if any, of MBOAT7 on the correlation of PNPLA3 polymorphism with liver fibrosis in HCV patients from Egypt. Methods: In this cross-sectional study, we recruited treatment-naive patients with chronic HCV. The rs738409 (PNPLA3) and rs641738 (MBOAT7) polymorphisms were assessed by Real-Time PCR. We utilized the METAVIR‐Score to classify the degree of hepatic fibrosis and necroinflammatory activity. Results: A total of 93 patients (mean age 42.72 ± 10.46; males = 49.5%) were included. Our analysis showed that 10.8% of the patients had GG genotype of the PNPLA3 gene and 46.2% had TT genotype of the MBOAT7 gene. Compared to combined CC and GC genotypes, carriers of GG genotype in PNPLA3 gene were more likely to be males (p =0.041), have higher fibrosis grade (p =0.043), have higher serum creatinine (p =0.036), higher TSH (p =0.017) and higher viral load (p =0.045). Notably, we found a significant association between TT genotype in MBOAT7 and advanced fibrosis only (but not with necroinflammation (p >0.05). Our multivariate analysis showed that the GG genotype in the PNPLA3 gene and TT genotype in the MBOAT7 gene were independent predictors of advanced fibrosis. Conclusion: PNPLA3 GG genotype and MBOAT7 TT genotype are independent predictors for hepatic fibrosis, and thus might be linked to faster disease progression.

Background: Association studies identified genetic polymorphisms as predictive risk factors of rapid fibrosis progression in chronic hepatitis C (CHC). This study aims to assess the impact of IL28B rs8099917 polymorphism on CHC genotype 4 (G4) susceptibility and liver fibrosis progression individually; and in combination with PNPLA3 rs738409.Patients and methods: IL28B rs8099917 and PNPLA3 rs738409 were genotyped in 150 Egyptian CHC patients and 175 healthy controls using real-time PCR.Results: IL28B rs8099917 genotype distribution significantly differs in healthy individuals versus CHC patients (p = .018); and in low versus advanced fibrosis IL28B (p = .013). The haplotype CC -GG (PNPLA3-IL28B) is considered a high-risk signature for susceptibility to CHC infection. Similarly, GG-GG (PNPLA3-IL28B) is considered a high-risk signature for higher degree of fibrosis.Conclusion: IL28B rs8099917 and PNPLA3 rs738409 introduce genetic signature to identify patients at higher risk for CHC susceptibility and fibrosis progression in CHC G4.