Evidence map›Paper›PMID 30842500›Full record

ArticleScientific reports2019

Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease.

Serena Pelusi, Guido Baselli, Alessandro Pietrelli, Paola Dongiovanni, Benedetta Donati, Misti Vanette McCain, Marica Meroni, Anna Ludovica Fracanzani, Renato Romagnoli, Salvatore Petta and 12 more

Open access · goldAbstract readMulticenter Study
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
69citing papers in PubMed, 4 pooled it
12.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

69 citing papers in PubMed, 4 syntheses or guidelines pooled it, 122 citations in OpenAlex.

  1. Guideline
  2. Guideline
  3. Guideline
  4. Pooled it
  5. Long-term hepatic safety of lomitapide in homozygous familial hypercholesterolaemia.Liver international : official journal of the International Association for the Study of the Liver · 2023
    Trial
  6. Review
  7. Article
  8. Article
  9. Review
  10. Review
  11. Article
  12. Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD.Liver international : official journal of the International Association for the Study of the Liver · 2026
    Article
  13. Article
  14. Review
  15. Article
  16. Review
  17. Review
  18. Article
  19. Review
  20. Genetics of Metabolic Dysfunction-associated Steatotic Liver Disease: The State of the Art Update.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2024
    Review

9 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors at 12 institutions in 4 countries.

Serena PelusiDepartment of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Guido BaselliDepartment of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.ORCID 0000-0002-0234-6828
Alessandro PietrelliInternal Medicine and Metabolic Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Paola DongiovanniInternal Medicine and Metabolic Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Benedetta DonatiDepartment of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Misti Vanette McCainNorthern Institute for Cancer Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
Marica MeroniDepartment of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Anna Ludovica FracanzaniDepartment of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Renato RomagnoliDepartment of Surgical Sciences, Liver Transplantation Center, University of Turin, Turin, Italy.ORCID 0000-0001-8340-8885
Salvatore PettaSection of Gastroenterology, DIBIMIS, University of Palermo, 90127, Palermo, Italy.
Antonio GriecoInternal Medicine and Gastroenterology Area, Fondazione Policlinico Universitario A. Gemelli, Catholic University of Rome, 00168, Rome, Italy.
Luca MieleInternal Medicine and Gastroenterology Area, Fondazione Policlinico Universitario A. Gemelli, Catholic University of Rome, 00168, Rome, Italy.ORCID 0000-0003-3464-0068
Giorgio SoardoClinic of Internal Medicine-Liver Unit, Department of Experimental and Clinical Medical Sciences, University of Udine, Udine, Italy.
Elisabetta BugianesiDivision of Gastroenterology, Department of Medical Sciences, University of Torino, Torino, Italy.
Silvia FargionDepartment of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Alessio AghemoDivision of Gastroenterology and Hepatology Unit, Humanitas Research Hospital and Humanitas University, Rozzano (MI), Italy.
Roberta D'Ambrosio"A.M. e A. Migliavacca" Center for the Study of Liver Disease, Division of Gastroenterology and Hepatology, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milano, Italy.
Chao XingMcDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, USA.ORCID 0000-0002-1838-0502
Stefano RomeoSahlgrenska Center for Cardiovascular and Metabolic Research, Wallenberg Laboratory, Cardiology Department, University of Gothenburg, Gothenburg, Sweden.
Raffaele De FrancescoIstituto Nazionale di Genetica Molecolare (INGM), Romeo ed Enrica Invernizzi, Bioinformatic group, Milan, Italy.
Helen Louise ReevesNorthern Institute for Cancer Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
Luca Vittorio Carlo ValentiDepartment of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. luca.valenti@unimi.it.
University of Milan · ITAgostino Gemelli University Polyclinic · ITFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITUniversity of Turin · ITHumanitas University · ITIstituto Nazionale Genetica Molecolare · ITMagna Graecia University · ITNewcastle University · GBNewcastle upon Tyne Hospitals NHS Foundation Trust · GBSouthwestern Medical Center · USUniversity of Palermo · ITUniversity of Udine · IT

Funding

Cancer Research UK 26813
6 · The paper itself

Abstract

Nonalcoholic fatty liver disease (NAFLD) is a rising cause of hepatocellular carcinoma (HCC). We examined whether inherited pathogenic variants in candidate genes (n = 181) were enriched in patients with NAFLD-HCC. To this end, we resequenced peripheral blood DNA of 142 NAFLD-HCC, 59 NAFLD with advanced fibrosis, and 50 controls, and considered 404 healthy individuals from 1000 G. Pathogenic variants were defined according to ClinVar, likely pathogenic as rare variants predicted to alter protein activity. In NAFLD-HCC patients, we detected an enrichment in pathogenic (p = 0.024), and likely pathogenic variants (p = 1.9*10

Indexed as

AgedApolipoprotein B-100Carcinoma, HepatocellularCase-Control StudiesCholesterol, HDLFemaleGenetic Predisposition to DiseaseGlial Cell Line-Derived Neurotrophic Factor ReceptorsHumansLiver NeoplasmsMaleMiddle AgedNon-alcoholic Fatty Liver DiseaseReproducibility of ResultsRisk FactorsSequestosome-1 ProteinAPOB protein, humanApolipoprotein B-100Cholesterol, HDLGFRA1 protein, humanGlial Cell Line-Derived Neurotrophic Factor ReceptorsSequestosome-1 ProteinSQSTM1 protein, human

Identifiers

PMID30842500
PMCPMC6403344
OpenAlexW2919587539

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.