ArticleEuropean journal of human genetics : EJHG2012
Pathway-based genome-wide association analysis of coronary heart disease identifies biologically important gene sets.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled 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.
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.
Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Pathway-based analysis of GWAs data identifies association of sex determination genes with susceptibility to testicular germ cell tumors.Human molecular genetics · 2014Pooled it
- Integrative genomics reveals novel molecular pathways and gene networks for coronary artery disease.PLoS genetics · 2014Pooled it
- MEAST: a novel framework for analyzing gene set stability in single cell transcriptomics.Scientific reports · 2026Article
- The adverse effects of metabolic disorder on left ventricular myocardial mechano-energetic efficiency and dysfunction in ischemic cardiomyopathy: insight from a cardiac MRI study.Cardiovascular diabetology · 2025Article
- Validating methods for testing natural molecules on molecular pathways of interest in silico and in vitro.Journal of preventive medicine and hygiene · 2022Article
- A comparative pharmacogenomic analysis of three classic TCM prescriptions for coronary heart disease based on molecular network modeling.Acta pharmacologica Sinica · 2020Article
- Precision medicine validation: identifying theJournal of feline medicine and surgery · 2019Article
- Identification of Risk Pathways and Functional Modules for Coronary Artery Disease Based on Genome-wide SNP Data.Genomics, proteomics & bioinformatics · 2016Article
- Integrative analysis of genome-wide association studies and gene expression analysis identifies pathways associated with rheumatoid arthritis.Oncotarget · 2016Article
- Genetic epidemiology of coronary artery disease: an Asian Indian perspective.Journal of genetics · 2015Review
- Identification of possible pathogenic pathways in Behçet's disease using genome-wide association study data from two different populations.European journal of human genetics : EJHG · 2015Article
- Pathway-based association analysis of two genome-wide screening data identifies rheumatoid arthritis-related pathways.Genes and immunity · 2014Article
- Candidate disease gene prediction using Gentrepid: application to a genome-wide association study on coronary artery disease.Molecular genetics & genomic medicine · 2014Article
- Association between CDH13 variants and cardiometabolic and vascular phenotypes in a Korean population.Yonsei medical journal · 2013Article
- Cardiomyocyte-specific overexpression of an active form of Rac predisposes the heart to increased myocardial stunning and ischemia-reperfusion injury.American journal of physiology. Heart and circulatory physiology · 2013Article
- Genome-wide pathway association studies of multiple correlated quantitative phenotypes using principle component analyses.PloS one · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Genome-wide association (GWA) studies of complex diseases including coronary heart disease (CHD) challenge investigators attempting to identify relevant genetic variants among hundreds of thousands of markers being tested. A selection strategy based purely on statistical significance will result in many false negative findings after adjustment for multiple testing. Thus, an integrated analysis using information from the learned genetic pathways, molecular functions, and biological processes is desirable. In this study, we applied a customized method, variable set enrichment analysis (VSEA), to the Framingham Heart Study data (404,467 variants, n=6421) to evaluate enrichment of genetic association in 1395 gene sets for their contribution to CHD. We identified 25 gene sets with nominal P<0.01; at least four sets are previously known for their roles in CHD: vascular genesis (GO:0001570), fatty-acid biosynthetic process (GO:0006633), fatty-acid metabolic process (GO:0006631), and glycerolipid metabolic process (GO:0046486). Although the four gene sets include 170 genes, only three of the genes contain a variant ranked among the top 100 in single-variant association tests of the 404,467 variants tested. Significant enrichment for novel gene sets less known for their importance to CHD were also identified: Rac 1 cell-motility signaling pathway (h_rac1 Pathway, P<0.001) and sulfur amino-acid metabolic process (GO:0000096, P<0.001). In summary, we showed that the pathway-based VSEA can help prioritize association signals in GWA studies by identifying biologically plausible targets for downstream searches of genetic variants associated with CHD.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.