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

PNPLA3 I148M polymorphism and progressive liver disease

Open access
Dongiovanni, Paola·2013·World Journal of Gastroenterology

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.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.3748/wjg.v19.i41.6969

Cites

103 of 103 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • The I148M PNPLA3 single-nucleotide polymorphism has been identified as a major common genetic determinant of MASH severity and outcome.

    “As for predisposing genetic factors, the I148M PNPLA3 single-nucleotide polymorphism (SNP) has been identified as a major common genetic determinant of MASH severity and outcome(220), while several other gene variants are also likely to modify”

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

1 retracted

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Dongiovanni, P.
Affiliations
University of Milan (IT)
Corresponding author
Dongiovanni, Paola
Venue
World Journal of Gastroenterology
Published
2013
Volume
19
Issue
41
Pages
6969
ISSN
1007-9327 (ISSN-L)
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
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 › Epidemiology › 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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review