Evidence map›Paper›PMID 21072972›Full record

ReviewHuman genomics2009

Use of pathway information in molecular epidemiology.

Duncan C Thomas, David V Conti, James Baurley, Frederik Nijhout, Michael Reed, Cornelia M Ulrich

Abstract readReview
In one paragraph

Review in Human genomics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing 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

27 citing papers in PubMed.

  1. Article
  2. Fecal sample biobanking for breast cancer research focused on the gut microbiome.medRxiv : the preprint server for health sciences · 2025
    Article
  3. Bayesian matrix completion for hypothesis testing.Journal of the Royal Statistical Society. Series C, Applied statistics · 2023
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Multiple comparisons in genetic association studies: a hierarchical modeling approach.Statistical applications in genetics and molecular biology · 2014
    Article
  12. Review
  13. Article
  14. Biomarkers for smoking cessation.Clinical pharmacology and therapeutics · 2013
    Review
  15. Pathway-based personalized analysis of cancer.Proceedings of the National Academy of Sciences of the United States of America · 2013
    Article
  16. Chapter 15: disease gene prioritization.PLoS computational biology · 2013
    Article
  17. Article
  18. Article
  19. Article
  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.

Duncan C ThomasDepartment of Preventive Medicine, University of Southern California, 1540 Alcazar St., CHP-220, Los Angeles, CA 90089-9011, USA. dthomas@usc.edu
David V Conti
James Baurley
Frederik Nijhout
Michael Reed
Cornelia M Ulrich

Funding

Translational Research Support CoreP30ES007048 · NIEHS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Joseph Leo Wiemels · 1996 to 2026
$46.4M
Genome-Wide Association Study of Nonsynonymous SNPs in Colon CancerR01CA059045 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI PETERS, ULRIKE · 1994 to 2011
$11.5M
Methods for Pathway Modeling with Application to FolateR01ES019876 · NIEHS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMAS, DUNCAN C. · 2010 to 2014
$2.9M
Folate, Vitamin D and Calcium in Colorectal CancerR01CA112237 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HAILE, ROBERT WILLIAM · 2005 to 2009
$2.3M
Rectal Cancer: Molecular Markers of Outcome and ToxicityR01CA105145 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI LENZ, HEINZ JOSEF · 2004 to 2007
$1.4M
Tumor plasmacytoid dendritic cells and tumor immunityR01CA092562 · NCI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ZOU, WEIPING · 2003 to 2007
$1.4M
DESIGN AND ANALYSIS OF GENOME-WIDE ASSOCIATION STUDIESU01ES015090 · NIEHS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMAS, DUNCAN C. · 2006 to 2008
$927k
Modeling Folate, One-Carbon Metabolism &DNA MethylationR01CA105437 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI ULRICH, CORNELIA M · 2004 to 2007
$914k
NCI NIH HHS R01-CA105145NCI NIH HHS R01-CA105437NCI NIH HHS R01-CA112237NCI NIH HHS R01-CA59045NCI NIH HHS R01-CA92562NIEHS NIH HHS P50-ES07048NIEHS NIH HHS R01 ES019876NIEHS NIH HHS U01 ES015090NIEHS NIH HHS U01-ES015090
6 · The paper itself

Abstract

Candidate gene studies are generally motivated by some form of pathway reasoning in the selection of genes to be studied, but seldom has the logic of the approach been carried through to the analysis. Marginal effects of polymorphisms in the selected genes, and occasionally pairwise gene–gene or gene–environment interactions,are often presented, but a unified approach to modelling the entire pathway has been lacking. In this review, a variety of approaches to this problem is considered, focusing on hypothesis-driven rather than purely exploratory methods. Empirical modelling strategies are based on hierarchical models that allow prior knowledge about the structure of the pathway and the various reactions to be included as ‘prior covariates’. By contrast, mechanistic models aim to describe the reactions through a system of differential equations with rate parameters that can vary between individuals, based on their genotypes. Some ways of combining the two approaches are suggested and Bayesian model averaging methods for dealing with uncertainty about the true model form in either framework is discussed. Biomarker measurements can be incorporated into such analyses, and two-phase sampling designs stratified on some combination of disease, genes and exposures can be an efficient way of obtaining data that would be too expensive or difficult to obtain on a full candidate gene sample. The review concludes with some thoughts about potential uses of pathways in genome-wide association studies.

Indexed as

Genome-Wide Association StudyMetabolic Networks and PathwaysPolymorphism, GeneticBayes TheoremColorectal NeoplasmsEpistasis, GeneticFolic AcidGenetic MarkersGenotypeHumansMolecular EpidemiologyRiskFolic AcidGenetic Markers

Identifiers

PMID21072972
PMCPMC2999471

What OpenQuestion holds

Textmetadata
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.