Evidence map›Paper›PMID 23392275›Full record

ArticleGenes and immunity2013

Pathway-based analysis of primary biliary cirrhosis genome-wide association studies.

S P Kar, M F Seldin, W Chen, E Lu, G M Hirschfield, P Invernizzi, J Heathcote, D Cusi, Italian PBC Genetics Study Group, M E Gershwin and 2 more

Open access · bronzeAbstract read
In one paragraph

Article in Genes and immunity, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
5.4field-weighted citation impact, top 4% 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

26 citing papers in PubMed, 54 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Primary biliary cholangitis: pathogenesis and therapeutic opportunities.Nature reviews. Gastroenterology & hepatology · 2020
    Review
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Review
  11. The Immunogenetics of Autoimmune Cholestasis.Clinics in liver disease · 2016
    Review
  12. Article
  13. Review
  14. Review
  15. Review
  16. Article
  17. Unmet challenges in immune-mediated hepatobiliary diseases.Clinical reviews in allergy & immunology · 2015
    Article
  18. Animal models of primary biliary cirrhosis.Clinical reviews in allergy & immunology · 2015
    Review
  19. Article
  20. Advances in pharmacotherapy for primary biliary cirrhosis.Expert opinion on pharmacotherapy · 2015
    Review
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

12 authors at 6 institutions in 4 countries.

S P KarDepartment of Genetics, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
M F Seldin
W Chen
E Lu
G M Hirschfield
P Invernizzi
J Heathcote
D Cusi
Italian PBC Genetics Study Group
M E Gershwin
K A Siminovitch
C I Amos
The University of Texas MD Anderson Cancer Center · USUniversity of California, Davis · USUniversity of Toronto · CADartmouth College · USNIHR Birmingham Liver Biomedical Research Unit · GBUniversity of Milan · IT

Funding

EPIDEMIOLOGY OF PRIMARY BILIARY CIRRHOSISR01DK056839 · NIDDK · UNIVERSITY OF CALIFORNIA DAVIS · PI GERSHWIN, MERRILL E · 2000 to 2011
$6.0M
IDENTIFICATION OF COMMON AND UNCOMMON GENE VARIANTS IN PBCR01DK091823 · NIDDK · UNIVERSITY OF CALIFORNIA AT DAVIS · PI GERSHWIN, MERRILL E, KINGSMORE, STEPHEN FRANCIS · 2011 to 2014
$2.4M
Bioinformatics and Population Genetics to Identify Rheumatoid Arthritis GenesK08AR055688 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI RAYCHAUDHURI, SOUMYA · 2008 to 2012
$724k
CIHR MOP74621NIAMS NIH HHS K08 AR055688NIAMS NIH HHS K08AR055688NIDDK NIH HHS R01 DK056839NIDDK NIH HHS R01DK056839NIDDK NIH HHS R01 DK091823NIDDK NIH HHS R01DK091823
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have successfully identified several loci associated with primary biliary cirrhosis (PBC) risk. Pathway analysis complements conventional GWAS analysis. We applied the recently developed linear combination test for pathways to datasets drawn from independent PBC GWAS in Italian and Canadian subjects. Of the Kyoto Encyclopedia of Genes and Genomes and BioCarta pathways tested, 25 pathways in the Italian dataset (449 cases, 940 controls) and 26 pathways in the Canadian dataset (530 cases, 398 controls) were associated with PBC susceptibility (P<0.05). After correcting for multiple comparisons, only the eight most significant pathways in the Italian dataset had FDR <0.25 with tumor necrosis factor/stress-related signaling emerging as the top pathway (P=7.38 × 10⁻⁴, FDR=0.18). Two pathways, phosphatidylinositol signaling and hedgehog signaling, were replicated in both datasets (P<0.05), and subjected to two additional complementary pathway tests. Both pathway signals remained significant in the Italian dataset on modified gene set enrichment analysis (P<0.05). In both GWAS, variants nominally associated with PBC were significantly overrepresented in the phosphatidylinositol pathway (Fisher exact P<0.05). These results point to established and novel pathway-level associations with inherited predisposition to PBC that, on further independent replication and functional validation, may provide fresh insights into PBC etiology.

Indexed as

AlgorithmsCanadaCohort StudiesDatabases, GeneticFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansItalyLinkage DisequilibriumLiver Cirrhosis, BiliaryMaleMeta-Analysis as TopicMiddle Aged

Identifiers

PMID23392275
PMCPMC3780793
OpenAlexW2088268136

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.