ArticleGenome biology2017
Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies.
Article in Genome biology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 119 papers, 11 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
119 citing papers in PubMed, 11 syntheses or guidelines pooled it.
- Sex and statin-related genetic associations at the PCSK9 gene locus: results of genome-wide association meta-analysis.Biology of sex differences · 2024Pooled it
- Digital Clock Drawing as an Alzheimer's Disease Susceptibility Biomarker: Associations with Genetic Risk Score and APOE in Older Adults.The journal of prevention of Alzheimer's disease · 2024Pooled it
- Transcriptome-wide association study of circulating IgE levels identifies novel targets for asthma and allergic diseases.Frontiers in immunology · 2023Pooled it
- Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.Human molecular genetics · 2022Pooled it
- Epigenome-wide association study of mitochondrial genome copy number.Human molecular genetics · 2021Pooled it
- A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids.Nature communications · 2021Pooled it
- ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response.Nature communications · 2019Pooled it
- A catalog of genetic loci associated with kidney function from analyses of a million individuals.Nature genetics · 2019Pooled it
- Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function.Nature communications · 2018Pooled it
- Integrative genomics identifies new genes associated with severe COPD and emphysema.Respiratory research · 2018Pooled it
- New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals.Circulation. Cardiovascular genetics · 2017Pooled it
- A HIF1A variant impacts long-term disability and smoldering inflammation in multiple sclerosis.Acta neuropathologica · 2026Article
- Multi-omics integration andFrontiers in immunology · 2026Article
- Integrating whole genome and transcriptome sequencing to characterize the genetic architecture of isoform variation.Nature communications · 2025Article
- Integrating genetic and transcriptomic data to identify genes underlying obesity risk loci.International journal of obesity (2005) · 2025Article
- Identification of the putative regulatory regions and candidate genes associated with backfat thickness and intramuscular fat content traits in Xiang pigs.BMC genomics · 2025Article
- A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.NPJ Parkinson's disease · 2025Article
- Causal Relationships Between Neuropathic Pain and Alzheimer's Disease: A Multi-Omics Mendelian Randomization Study with Exploratory Evidence of a Potential Protective Role of Diabetic Neuropathy.Journal of pain research · 2025Article
- SNP-Based and Kmer-Based eQTL Analysis Using Transcriptome Data.Animals : an open access journal from MDPI · 2024Article
- Identifying genetically-supported drug repurposing targets for non-small cell lung cancer through mendelian randomization of the druggable genome.Translational lung cancer research · 2024Article
59 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors.
Funding
Abstract
backgroundIdentification of single nucleotide polymorphisms (SNPs) associated with gene expression levels, known as expression quantitative trait loci (eQTLs), may improve understanding of the functional role of phenotype-associated SNPs in genome-wide association studies (GWAS). The small sample sizes of some previous eQTL studies have limited their statistical power. We conducted an eQTL investigation of microarray-based gene and exon expression levels in whole blood in a cohort of 5257 individuals, exceeding the single cohort size of previous studies by more than a factor of 2.
resultsWe detected over 19,000 independent lead cis-eQTLs and over 6000 independent lead trans-eQTLs, targeting over 10,000 gene targets (eGenes), with a false discovery rate (FDR) < 5%. Of previously published significant GWAS SNPs, 48% are identified to be significant eQTLs in our study. Some trans-eQTLs point toward novel mechanistic explanations for the association of the SNP with the GWAS-related phenotype. We also identify 59 distinct blocks or clusters of trans-eQTLs, each targeting the expression of sets of six to 229 distinct trans-eGenes. Ten of these sets of target genes are significantly enriched for microRNA targets (FDR < 5%). Many of these clusters are associated in GWAS with multiple phenotypes.
conclusionsThese findings provide insights into the molecular regulatory patterns involved in human physiology and pathophysiology. We illustrate the value of our eQTL database in the context of a recent GWAS meta-analysis of coronary artery disease and provide a list of targeted eGenes for 21 of 58 GWAS loci.
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.