Evidence map›Paper›PMID 23583734›Full record

ReviewGastroenterology2013

The genetics of complex cholestatic disorders.

Gideon M Hirschfield, Roger W Chapman, Tom H Karlsen, Frank Lammert, Konstantinos N Lazaridis, Andrew L Mason

Open access · greenAbstract readReview
In one paragraph

Review in Gastroenterology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.

0numbers the graph read from it
0cells of the map it votes in
54citing papers in PubMed
9.9field-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

54 citing papers in PubMed, 140 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Novel approaches to liver disease diagnosis and modeling.Translational gastroenterology and hepatology · 2021
    Review
  10. Article
  11. Review: Pathogenesis of cholestatic liver diseases.World journal of hepatology · 2020
    Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Update on primary sclerosing cholangitis.Clinical liver disease · 2017
    Review
  20. Article
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

6 authors at 6 institutions in 5 countries.

Gideon M HirschfieldCentre for Liver Research, National Institute for Health Research Biomedical Research Unit, University of Birmingham, Birmingham, England.
Roger W Chapman
Tom H Karlsen
Frank Lammert
Konstantinos N Lazaridis
Andrew L Mason
John Radcliffe Hospital · GBMayo Clinic · USOslo University Hospital · NOSaarland University · DEUniversity of Alberta · CAUniversity of Birmingham · GB

Funding

PSC Resource Of Genetic Risk, Environment and Synergy Studies (PROGRESS)R01DK084960 · NIDDK · MAYO CLINIC ROCHESTER · PI LAZARIDIS, KONSTANTINOS N · 2010 to 2014
$3.0M
Genomics of Primary Biliary CirrhosisR01DK080670 · NIDDK · MAYO CLINIC ROCHESTER · PI LAZARIDIS, KONSTANTINOS N · 2008 to 2015
$2.9M
CIHRNIDDK NIH HHS DK 80670NIDDK NIH HHS DK 84960NIDDK NIH HHS R01 DK080670NIDDK NIH HHS R01 DK084960
6 · The paper itself

Abstract

Cholestatic liver diseases are caused by a range of hepatobiliary insults and involve complex interactions among environmental and genetic factors. Little is known about the pathogenic mechanisms of specific cholestatic diseases, which has limited our ability to manage patients with these disorders. However, recent genome-wide studies have provided insight into the pathogenesis of gallstones, primary biliary cirrhosis, and primary sclerosing cholangitis. A lithogenic variant in the gene that encodes the hepatobiliary transporter ABCG8 has been identified as a risk factor for gallstone disease; this variant has been associated with altered cholesterol excretion and metabolism. Other variants of genes encoding transporters that affect the composition of bile have been associated with cholestasis, namely ABCB11, which encodes the bile salt export pump, and ABCB4, which encodes hepatocanalicular phosphatidylcholine floppase. In contrast, studies have associated primary biliary cirrhosis and primary sclerosing cholangitis with genes encoding major histocompatibility complex proteins and identified loci associated with microbial sensing and immune regulatory pathways outside this region, such as genes encoding IL12, STAT4, IRF5, IL2 and its receptor (IL2R), CD28, and CD80. These discoveries have raised interest in the development of reagents that target these gene products. We review recent findings from genetic studies of patients with cholestatic liver disease. Future characterization of genetic variants in animal models, stratification of risk alleles by clinical course, and identification of interacting environmental factors will increase our understanding of these complex cholestatic diseases.

Indexed as

Cholangitis, SclerosingCholestasisGallstonesGenome-Wide Association StudyHumansLiver Cirrhosis, BiliaryMajor Histocompatibility Complex

Identifiers

PMID23583734
PMCPMC3705954
OpenAlexW2076335782

What OpenQuestion holds

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Registered trials

None linked

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.