1Department of Microbial Biotechnology, Egypt
2Department of Pharmaceutical Biology, Egypt
3Department of Clinical and Chemical Pathology, Egypt
4Department of Hepatology, Egypt
*Corresponding author: Rana Ahmed Youness, Department of Pharmaceutical Biology, Egypt
Submission: September 10, 2018; Published: December 04, 2018
ISSN 2637-7632Volume2 Issue3
Introduction: Chronic Hepatitis C (CHC) infection is associated with liver fibrosis, cirrhosis, hepatocellular carcinoma, and eventually death. Genetic risk factors have been casted as predictors of the severity and progression of several CHC-associated liver diseases. PNPLA3 (rs738409), a novel genetic marker strongly associated with increased fat content in the liver. Nonetheless, recognition of an association between PNPLA3 rs73409 (C>G) and the severity of fibrosis in CHC has been inadequately studied.
Aim: To investigate the impact of PNPLA3 rs73409 (C>G) polymorphism on susceptibility to HCV infection and on liver fibrosis progression.
Methods: 351 individuals were genotyped for rs73409 (C>G) by TaqMan allelic discrimination assay, among them 175 were HCV patients and 176 healthy controls.
Result: A statistically significant correlation (p=0.001) was found between the genotype distribution of rs73409 (C>G) in healthy individuals versus HCV patients. Moreover, among HCV individuals, the distribution of GG genotype showed statistically significant difference (P=0.042) in low grade versus high grade and is more frequent in advanced fibrosis. Gender related differential effect of rs73409 (C>G) genotype was reported in susceptibility to HCV and degree of liver fibrosis.
Conclusion: PNPLA3 rs73409 (C>G) polymorphism affects susceptibility to infection by HCV and fibrosis progression in Egyptian genotype 4 HCV patients.
Keywords: PNPLA3; HCV; Polymorphism; Susceptibility to HCV; Liver fibrosis
Key Points The PNPLA3 rs73409 homozygous CC genotype is 2.19 times more among patients than controls, indicating a role of this genotype in susceptibility to HCV especially in females. The PNPLA3 rs73409 homozygous genotype GG was associated within advanced fibrosis in HCV patients. When stratified according to gender, the GG genotypes is associated with advanced fibrosis in males only but not females. The PNPLA3 rs73409 can be used as risk factor to identify individuals at high risk of HCV infection and HCV patients at risk of severe fibrosis