ArticlePloS one2018
Interactions between genetic variation and cellular environment in skeletal muscle gene expression.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Bridging the variant-to-function gap in type 2 diabetes: advances and challenges.Diabetologia · 2026Review
- Trans-eQTL hotspots shape complex traits by modulating cellular states.Cell genomics · 2025Article
- Genotype × environment interactions in gene regulation and complex traits.Nature genetics · 2024Review
- Functional interrogation of twenty type 2 diabetes-associated genes using isogenic human embryonic stem cell-derived β-like cells.Cell metabolism · 2023Article
- The Public Health Need and Strategic Opportunities for the Accelerated Development of Function-Promoting Therapies for Older Adults.The journals of gerontology. Series A, Biological sciences and medical sciences · 2023Article
- The dynamic effect of genetic variation on the in vivo ER stress transcriptional response in different tissues.G3 (Bethesda, Md.) · 2022Article
- Transcription factor regulation of eQTL activity across individuals and tissues.PLoS genetics · 2022Article
- Single-cell sequencing reveals lineage-specific dynamic genetic regulation of gene expression during human cardiomyocyte differentiation.PLoS genetics · 2022Article
- Article
- Where Are the Disease-Associated eQTLs?Trends in genetics : TIG · 2021Review
- Can molecular stratification improve the treatment of inflammatory bowel disease?Pharmacological research · 2019Review
- Using Transcriptomic Hidden Variables to Infer Context-Specific Genotype Effects in the Brain.American journal of human genetics · 2019Article
- Environmental influences on RNA processing: Biochemical, molecular and genetic regulators of cellular response.Wiley interdisciplinary reviews. RNA · 2019Review
Corrections and comments
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Authors and funding
25 authors.
Funding
Abstract
From whole organisms to individual cells, responses to environmental conditions are influenced by genetic makeup, where the effect of genetic variation on a trait depends on the environmental context. RNA-sequencing quantifies gene expression as a molecular trait, and is capable of capturing both genetic and environmental effects. In this study, we explore opportunities of using allele-specific expression (ASE) to discover cis-acting genotype-environment interactions (GxE)-genetic effects on gene expression that depend on an environmental condition. Treating 17 common, clinical traits as approximations of the cellular environment of 267 skeletal muscle biopsies, we identify 10 candidate environmental response expression quantitative trait loci (reQTLs) across 6 traits (12 unique gene-environment trait pairs; 10% FDR per trait) including sex, systolic blood pressure, and low-density lipoprotein cholesterol. Although using ASE is in principle a promising approach to detect GxE effects, replication of such signals can be challenging as validation requires harmonization of environmental traits across cohorts and a sufficient sampling of heterozygotes for a transcribed SNP. Comprehensive discovery and replication will require large human transcriptome datasets, or the integration of multiple transcribed SNPs, coupled with standardized clinical phenotyping.
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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.