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Genotyping of single nucleotide polymorphism located in PNPLA3 genes of individuals with Hepatitis C Virus chronic infection

Grant number: 16/19993-8
Support Opportunities:Scholarships in Brazil - Scientific Initiation
Effective date (Start): December 01, 2016
Effective date (End): November 30, 2017
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Fernanda de Mello Malta
Grantee:Ana Paula Moreira Salles
Host Institution: Instituto de Medicina Tropical de São Paulo (IMT). Universidade de São Paulo (USP). São Paulo , SP, Brazil


Hepatitis C is a major cause of chronic liver inflammatory disease in the world. In the history of hepatitis C more than 80% of infected people progress to chronic infection. Its complications can start with a mild steatosis (liver fat accumulation), progressing to fibrosis and cirrhosis in 20 years after infection. Genome-Wide Association Studies (GWAS) can identify single nucleotide polymorphisms (SNPs) that may predict risk for certain diseases. In 2008, a GWAS type of study identified a variant (rs738409 C / G; Ile148Met) in PNPLA3 gene (patatin-like phospolipase domain containing 3) strongly associated with non-alcoholic fatty liver disease (NAFLD), and subsequent studies, the association of this polymorphism with hepatic steatosis and progression to fibrosis in hepatitis C. This study aims to determine the genotype and the frequency of the single base polymorphism in PNPLA3 gene (rs738409) of 168 individuals chronically infected with HCV and 80 controls (uninfected with HIV, HCV and/or HBV); to evaluate whether there is association between genotypic profiles of this polymorphism and the degree of liver fibrosis in the subjects studied. The search for biomarkers is extremely necessary in hepatology, even after eradication (unlikely) of HCV. Therefore, studies on genetic factors that can predict the development of complications associated with hepatitis C remain important. (AU)

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