ArticleAmerican journal of human genetics2017
Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
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Who cites it
51 citing papers in PubMed, 1 synthesis or guideline pooled it, 99 citations in OpenAlex.
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- Associations of genetic variants with gene expression factors reveal biological pathways underlying complex traits.American journal of human genetics · 2026Article
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- Systems genetics reveals the influence of expression QTLs in mouse embryonic stem cells on transcriptional variation later in differentiated neural progenitor cells.G3 (Bethesda, Md.) · 2025Article
- Deciphering the coordinated roles of the host genome, duodenal mucosal genes, and microbiota in regulating complex traits in chickens.Microbiome · 2025Article
- ADELLE: A global testing method for trans-eQTL mapping.PLoS genetics · 2025Article
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- Epigenome-augmented eQTL-hotspots reveal genome-wide transcriptional programs in 36 human tissues.Briefings in bioinformatics · 2024Article
- Phenotype integration improves power and preserves specificity in biobank-based genetic studies of major depressive disorder.Nature genetics · 2023Article
- Identifying genetic regulatory variants that affect transcription factor activity.Cell genomics · 2023Article
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- The FoxP1 gene regulates lung function, production of matrix metalloproteinases and inflammatory mediators, and viability of lung epithelia.Respiratory research · 2022Article
- Aggregative trans-eQTL analysis detects trait-specific target gene sets in whole blood.Nature communications · 2022Article
- SNP-to-gene linking strategies reveal contributions of enhancer-related and candidate master-regulator genes to autoimmune disease.Cell genomics · 2022Article
- Genetic Elements at the Alpha-Synuclein Locus.Frontiers in neuroscience · 2022Review
- Predict long-range enhancer regulation based on protein-protein interactions between transcription factors.Nucleic acids research · 2021Article
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8 authors at 5 institutions in 1 country.
Funding
Abstract
Efforts to decipher the causal relationships between differences in gene regulation and corresponding differences in phenotype have been stymied by several basic technical challenges. Although detecting local, cis-eQTLs is now routine, trans-eQTLs, which are distant from the genes of origin, are far more difficult to find because millions of SNPs must currently be compared to thousands of transcripts. Here, we demonstrate an alternative approach: we looked for SNPs associated with the expression of many genes simultaneously and found that hundreds of trans-eQTLs each affect hundreds of transcripts in lymphoblastoid cell lines across three African populations. These trans-eQTLs target the same genes across the three populations and show the same direction of effect. We discovered that target transcripts of a high-confidence set of trans-eQTLs encode proteins that interact more frequently than expected by chance, are bound by the same transcription factors, and are enriched for pathway annotations indicative of roles in basic cell homeostasis. We thus demonstrate that our approach can uncover trans-acting transcriptional control circuits that affect co-regulated groups of genes: a key to understanding how cellular pathways and processes are orchestrated.
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