, Volume 57, Issue 8, pp 1977-1979
Date: 27 Jun 2012

Understanding the Role of PNPLA3 Genetic Variants in Patients with Chronic Hepatitis C Infection

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In 2008, in an attempt to identify genetic determinants of liver steatosis, Romeo et al. ran an independent genome-wide association study on 2,121 patients enrolled in the Dallas Heart Study that had hepatic fat content assessed by proton magnetic resonance spectroscopy [1]. By concentrating just on nonsynonymous sequence variations the authors were able to discover a variation (rs738409 C>G) at position 148 in the patatin-like phospholipase-3 (PNPLA3) gene as the strongest determinant of steatosis in patients. The genetic polymorphism encodes an isoleucine-to-methionine substitution. The PNPLA3 gene encodes a 481 amino acid protein of unknown function that belongs to the patatin-like phospholipase family; the progenitor of this family, patatin, has nonspecific lipid acyl hydrolase activity. Following this breakthrough discovery, several candidate gene studies have demonstrated that the G allele of PNPLA3 single nucleotide polymorphism (SNP) influences liver fat accumulation, is associ