Cited by 252Liver Disease Diagnosis and TreatmentLiver physiology and pathologyLiver Diseases and Immunity

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PNPLA3 I148M polymorphism and progressive liver disease

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Dongiovanni, Paola·2013·World Journal of Gastroenterology

DOI 10.3748/wjg.v19.i41.6969PMC PMC3819533

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Abstract

The 148 Isoleucine to Methionine protein variant (I148M) of patatin-like phospholipase domain-containing 3 (PNPLA3), a protein is expressed in the liver and is involved in lipid metabolism, has recently been identified as a major determinant of liver fat content. Several studies confirmed that the I148M variant predisposes towards the full spectrum of liver damage associated with fatty liver: from simple steatosis to steatohepatitis and progressive fibrosis. Furthermore, the I148M variant represents a major determinant of progression of alcohol related steatohepatitis to cirrhosis, and to influence fibrogenesis and related clinical outcomes in chronic hepatitis C virus hepatitis, and possibly chronic hepatitis B virus hepatitis, hereditary hemochromatosis and primary sclerosing cholangitis. All in all, studies suggest that the I148M polymorphism may represent a general modifier of fibrogenesis in liver diseases. Remarkably, the effect of the I148M variant on fibrosis was independent of that on hepatic steatosis and inflammation, suggesting that it may affect both the quantity and quality of hepatic lipids and the biology of non-parenchymal liver cells besides hepatocytes, directly promoting fibrogenesis. Therefore, PNPLA3 is a key player in liver disease progression. Assessment of the I148M polymorphism will possibly inform clinical practice in the future, whereas the determination of the effect of the 148M variant will reveal mechanisms involved in hepatic fibrogenesis.

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Authors: Dongiovanni, P.
Affiliations: University of Milan (IT)
Corresponding author: Dongiovanni, Paola
ORCID: Dongiovanni, Paola
Venue: World Journal of Gastroenterology
Publisher: Baishideng Publishing Group Inc.
Published: 2013
Volume: 19
Issue: 41
Pages: 6969
ISSN: 1007-9327 (ISSN-L)
DOI: 10.3748/wjg.v19.i41.6969
PMC: PMC3819533
OpenAlex: W2031119940
Cited by: 252
References: 103
Citations by year: 2026: 11 · 2025: 18 · 2024: 10 · 2023: 26 · 2022: 19 · 2021: 24 · 2020: 25 · 2019: 12 · 2018: 17 · 2017: 23 · 2016: 21 · 2015: 31 · 2014: 15
FWCI: 2.65
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by-nc
Locations: World Journal of Gastroenterology (publishedVersion, cc-by-nc)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, other-oa)
Topics: Health Sciences › Medicine › Hepatology › Liver Disease Diagnosis and Treatment
Health Sciences › Medicine › Hepatology › Liver physiology and pathology
Health Sciences › Medicine › Hepatology › Liver Diseases and Immunity
Keywords: PNPLA3, I148M polymorphism, hepatic steatosis, steatohepatitis, liver fibrosis, fibrogenesis, liver cirrhosis, chronic hepatitis C, chronic hepatitis B, hereditary hemochromatosis, primary sclerosing cholangitis, genetic susceptibility, non-parenchymal liver cells, lipid metabolism
MeSH terms: Acyltransferases, Fatty Liver, Fatty Liver, Alcoholic, Hemochromatosis, Carcinoma, Hepatocellular, Humans, Lipase, Liver Cirrhosis, Liver Cirrhosis, Alcoholic, Liver Neoplasms, Membrane Proteins, Phenotype, Polymorphism, Genetic, Risk Factors, Cholangitis, Sclerosing, Disease Progression, Hepatitis B, Chronic, Hepatitis C, Chronic, Genetic Predisposition to Disease, Phospholipases A2, Calcium-Independent, Non-alcoholic Fatty Liver Disease

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PNPLA3 I148M polymorphism and progressive liver disease

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