Evidence map›Paper›PMID 20842628›Full record

ArticleGenetic epidemiology2010

Pathway-based analysis for genome-wide association studies using supervised principal components.

Xi Chen, Lily Wang, Bo Hu, Mingsheng Guo, John Barnard, Xiaofeng Zhu

Abstract read
In one paragraph

Article in Genetic epidemiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing 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

34 citing papers in PubMed.

  1. Trial
  2. A review of post-GWAS studies in schizophrenia.Translational psychiatry · 2025
    Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Review
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Gene set analysis: A step-by-step guide.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2015
    Review
  16. Article
  17. Article
  18. Article
  19. Pathway-based analysis tools for complex diseases: a review.Genomics, proteomics & bioinformatics · 2014
    Review
  20. 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

6 authors.

Xi ChenDivision of Cancer Biostatistics, Department of Biostatistics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.
Lily Wang
Bo Hu
Mingsheng Guo
John Barnard
Xiaofeng Zhu

Funding

THREE-TIERED PREVENTION MODEL TO BETTER SERVE ALL STUDENP30HD015052 · NICHD · VANDERBILT UNIVERSITY · PI DYKENS, ELISABETH MAY · 1985 to 2014
$18.6M
The Role of Thrombospondins in AtherothrombosisP50HL077107 · NHLBI · CLEVELAND CLINIC LERNER COM-CWRU · PI PLOW, EDWARD FRANKLIN · 2005 to 2009
$16.5M
Project 6 Interactions of Serotonin and Circadian Signaling NetworksP50MH078028 · NIMH · VANDERBILT UNIVERSITY · PI DENERIS, EVAN S · 2007 to 2011
$9.8M
Statistical methods for analyzing high-throughput genotype dataR01HG003054 · NHGRI · LOYOLA UNIVERSITY CHICAGO · PI ZHU, XIAOFENG · 2005 to 2017
$3.6M
Fine Mapping of Hypertension Genes Detected by Admixture Mapping in the FBPPR01HL086718 · NHLBI · CASE WESTERN RESERVE UNIVERSITY · PI ZHU, XIAOFENG · 2007 to 2011
$3.3M
Defining an Obesity QTL on Chromosome 3qR01HL074166 · NHLBI · LOYOLA UNIVERSITY CHICAGO · PI ZHU, XIAOFENG · 2004 to 2007
$2.9M
NHGRI NIH HHS HG003054NHGRI NIH HHS R01 HG003054NHLBI NIH HHS 1 P50 HL 077107NHLBI NIH HHS HL074166NHLBI NIH HHS HL086718NHLBI NIH HHS P50 HL077107NHLBI NIH HHS R01 HL074166NHLBI NIH HHS R01 HL086718NICHD NIH HHS 5P30 HD015052-25NICHD NIH HHS P30 HD015052NIMH NIH HHS 1 P50 MH078028-01A1NIMH NIH HHS P50 MH078028Wellcome TrustWellcome Trust 076113
6 · The paper itself

Abstract

Many complex diseases are influenced by genetic variations in multiple genes, each with only a small marginal effect on disease susceptibility. Pathway analysis, which identifies biological pathways associated with disease outcome, has become increasingly popular for genome-wide association studies (GWAS). In addition to combining weak signals from a number of SNPs in the same pathway, results from pathway analysis also shed light on the biological processes underlying disease. We propose a new pathway-based analysis method for GWAS, the supervised principal component analysis (SPCA) model. In the proposed SPCA model, a selected subset of SNPs most associated with disease outcome is used to estimate the latent variable for a pathway. The estimated latent variable for each pathway is an optimal linear combination of a selected subset of SNPs; therefore, the proposed SPCA model provides the ability to borrow strength across the SNPs in a pathway. In addition to identifying pathways associated with disease outcome, SPCA also carries out additional within-category selection to identify the most important SNPs within each gene set. The proposed model operates in a well-established statistical framework and can handle design information such as covariate adjustment and matching information in GWAS. We compare the proposed method with currently available methods using data with realistic linkage disequilibrium structures, and we illustrate the SPCA method using the Wellcome Trust Case-Control Consortium Crohn Disease (CD) data set.

Indexed as

Models, GeneticPrincipal Component AnalysisComputer SimulationCrohn DiseaseDatabases, GeneticGenome-Wide Association StudyHumansLinkage DisequilibriumMolecular EpidemiologyPolymorphism, Single Nucleotide

Identifiers

PMID20842628
PMCPMC3480088

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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.