ArticleAmerican journal of human genetics2014
Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 93 citations in OpenAlex.
- Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood.Nature communications · 2018Pooled it
- The Importance of Regulatory Network Structure for Complex Trait Heritability and Evolution.Molecular biology and evolution · 2025Article
- Enhanced genetic fine mapping accuracy with Bayesian Linear Regression models in diverse genetic architectures.PLoS genetics · 2025Article
- Deciphering the coordinated roles of the host genome, duodenal mucosal genes, and microbiota in regulating complex traits in chickens.Microbiome · 2025Article
- meQTL mapping in the GENOA study reveals genetic determinants of DNA methylation in African Americans.Nature communications · 2023Article
- Genetic variation in chromatin state across multiple tissues in Drosophila melanogaster.PLoS genetics · 2023Article
- Robustness of quantifying mediating effects of genetically regulated expression on complex traits with mediated expression score regression.Biology methods & protocols · 2023Review
- Leveraging eQTLs to identify individual-level tissue of interest for a complex trait.PLoS computational biology · 2021Article
- Efficient and effective control of confounding in eQTL mapping studies through joint differential expression and Mendelian randomization analyses.Bioinformatics (Oxford, England) · 2021Article
- Exploratory Genome-Wide Interaction Analysis of Nonsteroidal Anti-inflammatory Drugs and Predicted Gene Expression on Colorectal Cancer Risk.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Article
- Quantifying genetic effects on disease mediated by assayed gene expression levels.Nature genetics · 2020Article
- Functional informed genome-wide interaction analysis of body mass index, diabetes and colorectal cancer risk.Cancer medicine · 2020Article
- Genetic Architecture of Gene Expression in European and African Americans: An eQTL Mapping Study in GENOA.American journal of human genetics · 2020Article
- A Multi-tissue Transcriptome Analysis of Human Metabolites Guides Interpretability of Associations Based on Multi-SNP Models for Gene Expression.American journal of human genetics · 2020Article
- Regulatory annotation of genomic intervals based on tissue-specific expression QTLs.Bioinformatics (Oxford, England) · 2020Article
- A Guide to Conquer the Biological Network Era Using Graph Theory.Frontiers in bioengineering and biotechnology · 2020Review
- Leveraging allelic imbalance to refine fine-mapping for eQTL studies.PLoS genetics · 2019Article
- The Translational Potential of Neuroimaging Genomic Analyses To Diagnosis And Treatment In The Mental Disorders.Proceedings of the IEEE. Institute of Electrical and Electronics Engineers · 2019Article
- Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.Human genetics · 2019Article
- Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample.Human molecular genetics · 2019Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Top signals from genome-wide association studies (GWASs) of type 2 diabetes (T2D) are enriched with expression quantitative trait loci (eQTLs) identified in skeletal muscle and adipose tissue. We therefore hypothesized that such eQTLs might account for a disproportionate share of the heritability estimated from all SNPs interrogated through GWASs. To test this hypothesis, we applied linear mixed models to the Wellcome Trust Case Control Consortium (WTCCC) T2D data set and to data sets representing Mexican Americans from Starr County, TX, and Mexicans from Mexico City. We estimated the proportion of phenotypic variance attributable to the additive effect of all variants interrogated in these GWASs, as well as a much smaller set of variants identified as eQTLs in human adipose tissue, skeletal muscle, and lymphoblastoid cell lines. The narrow-sense heritability explained by all interrogated SNPs in each of these data sets was substantially greater than the heritability accounted for by genome-wide-significant SNPs (∼10%); GWAS SNPs explained over 50% of phenotypic variance in the WTCCC, Starr County, and Mexico City data sets. The estimate of heritability attributable to cross-tissue eQTLs was greater in the WTCCC data set and among lean Hispanics, whereas adipose eQTLs significantly explained heritability among Hispanics with a body mass index ≥ 30. These results support an important role for regulatory variants in the genetic component of T2D susceptibility, particularly for eQTLs that elicit effects across insulin-responsive peripheral tissues.
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