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.
Keywords: HCC; HCV; HCV-induced HCC; PNPLA3; biomarker; diagnostic; miR-516a-3P; polymorphism; prognostic.
In the past decade, miRNAs were established as biomarkers in various cancers, including liver cancer. Information about the deregulation of miR-516a-3p and its efficiency as a biomarker in hepatitis C virus (HCV) and liver cancer patients is lacking globally and in Egypt. This study proved for the first time that miR-516a-3p is differentially expressed in HCV and liver cancer patients and is statistically efficient in discriminating between them, so it might be used for early detection of HCC. Genetic variants that affect expression levels of genes are called expression quantitative trait loci (eQTL), and those acting on genes on other chromosomes are called trans-eQTL. The authors speculate that rs738409 is a genetic variant that might have a trans-eQTL effect on the miR-516a-3p gene in HCV patients.