Evidence map›Paper›PMID 20584322›Full record

ArticleBMC medical genomics2010

Pathway analysis comparison using Crohn's disease genome wide association studies.

David Ballard, Clara Abraham, Judy Cho, Hongyu Zhao

Abstract read
In one paragraph

Article in BMC medical genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
–field-weighted citation impact
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

21 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. The statistical properties of gene-set analysis.Nature reviews. Genetics · 2016
    Review
  5. Review
  6. Article
  7. Review
  8. Pathway-based analysis tools for complex diseases: a review.Genomics, proteomics & bioinformatics · 2014
    Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. 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

4 authors.

David BallardRobert S Boas Center for Human Genetics and Genomics, Feinstein Institute for Medical Research, Manhasset, New York, USA. dballard@nshs.edu
Clara Abraham
Judy Cho
Hongyu Zhao

Funding

YALE UNIVERSITY CLINICAL AND TRANSLATIONAL SCIENCE AWARD PROGRAMUL1RR024139 · NCRR · YALE UNIVERSITY · PI SHERWIN, ROBERT S · 2006 to 2011
$56.8M
MEDICAL INFORMATICS RESEARCH TRAINING AT YALET15LM007056 · NLM · YALE UNIVERSITY · PI Mark Bender Gerstein, LUCILA OHNO-MACHADO · 1987 to 2026
$22.2M
Yale University Inflammatory Bowel Disease Genetics Research CenterU01DK062422 · NIDDK · YALE UNIVERSITY · PI Ling-shiang Chuang · 2002 to 2026
$10.8M
STATISTICAL METHODS TO MAP GENES FOR COMPLEX TRAITSR01GM059507 · NIGMS · YALE UNIVERSITY · PI ZHAO, HONGYU · 1999 to 2013
$3.6M
Mechanisms of Chronic Nod2-mediated Effects in Human MacrophagesR01DK077905 · NIDDK · YALE UNIVERSITY · PI ABRAHAM, CLARA · 2008 to 2012
$1.7M
YALE BIOMEDICAL SUPERCOMPUTER: NEUROSCIENCES10RR019895 · NCRR · YALE UNIVERSITY · PI WILLIAMS, KENNETH ROBERT · 2004 to 2004
$1.6M
Mapping Chromosome 3q Inflammatory Bowel Disease GenesR01DK072373 · NIDDK · YALE UNIVERSITY · PI CHO, JUDY H. · 2006 to 2008
$845k
NCRR NIH HHS RR19895NCRR NIH HHS UL1 RR024139NIDDK NIH HHS 1R01DK072373NIDDK NIH HHS R01 DK077905NIDDK NIH HHS U01 DK062422NIGMS NIH HHS GM 59507NLM NIH HHS T15LM07056
6 · The paper itself

Abstract

backgroundThe use of biological annotation such as genes and pathways in the analysis of gene expression data has aided the identification of genes for follow-up studies and suggested functional information to uncharacterized genes. Several studies have applied similar methods to genome wide association studies and identified a number of disease related pathways. However, many questions remain on how to best approach this problem, such as whether there is a need to obtain a score to summarize association evidence at the gene level, and whether a pathway, dominated by just a few highly significant genes, is of interest.

methodsWe evaluated the performance of two pathway-based methods (Random Set, and Binomial approximation to the hypergeometric test) based on their applications to three data sets of Crohn's disease. We consider both the disease status as a phenotype as well as the residuals after conditioning on IL23R, a known Crohn's related gene, as a phenotype.

resultsOur results show that Random Set method has the most power to identify disease related pathways. We confirm previously reported disease related pathways and provide evidence for IL-2 Receptor Beta Chain in T cell Activation and IL-9 signaling as Crohn's disease associated pathways.

conclusionsOur results highlight the need to apply powerful gene score methods prior to pathway enrichment tests, and that controlling for genes that attain genome wide significance enable further biological insight.

Indexed as

Genome-Wide Association StudyCrohn DiseaseDatabases, GeneticHumansInterleukin-9PhenotypePolymorphism, Single NucleotidePrincipal Component AnalysisReceptors, InterleukinReceptors, Interleukin-2Signal TransductionIL23R protein, humanInterleukin-9Receptors, InterleukinReceptors, Interleukin-2

Identifiers

PMID20584322
PMCPMC2908056

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.