Patatin-like phospholipase domain containing 3 variants differentially impact metabolic traits in individuals at high risk for cardiovascular events

Hepatology Communications
Sabrina RüschenbaumChristian M Lange

Abstract

Single nucleotide polymorphism (SNP) rs738409 C>G in the patatin-like phospholipase domain containing 3 (PNPLA3) gene results in an amino acid exchange from isoleucin to methionine at position I148M of PNPLA3. The expression of this loss-of-function mutation leads to impaired hepatocellular triglyceride hydrolysis and is associated with the development of liver steatosis, fibrosis, and hepatocellular carcinoma. In contrast to these well-established associations, the relationship of the PNPLA3 rs738409 variant with other metabolic traits is incompletely understood. We therefore assessed the association of the PNPLA3 rs738409 genotype with relevant metabolic traits in a prospective study of patients at high risk for cardiovascular events, i.e., patients undergoing coronary angiography. In a total of 270 patients, known associations of the PNPLA3 rs738409 GG genotype with nonalcoholic steatohepatitis and liver fibrosis were confirmed. In addition, we found an association of the PNPLA3 rs738409 G allele with the presence of diabetes (22% versus 28% versus 58% for CC versus CG versus GG genotype, respectively; P = 0.02). In contrast to its association with nonalcoholic fatty liver disease, liver fibrosis, and diabetes, the minor G a...Continue Reading

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Citations

Dec 15, 2018·Current Opinion in Lipidology·Maria Camila Perez-MatosZhenghui Gordon Jiang
Nov 11, 2019·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Aynur Unalp-Arida, Constance E Ruhl
Jan 24, 2020·Frontiers in Pharmacology·Karthik Chandrasekharan, William Alazawi
Jul 3, 2020·SAGE Open Medicine·Giandomenico BisacciaSabina Gallina
Oct 24, 2019·Nature Reviews. Gastroenterology & Hepatology·Mohammed Eslam, Jacob George
Oct 4, 2020·Molecular Metabolism·Audrey DeprinceBart Staels

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Methods Mentioned

BETA
amino acid exchange
Genotyping
biopsy

Clinical Trials Mentioned

NCT01638832

Software Mentioned

FibroTest
FibroScan

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