ArticleBMC medical genomics2014
Overlap of expression quantitative trait loci (eQTL) in human brain and blood.
Article in BMC medical genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 3 of them syntheses that pooled it.
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Who cites it
37 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Establishing gene regulatory networks from Parkinson's disease risk loci.Brain : a journal of neurology · 2022Pooled it
- Identifying Risk Genes and Interpreting Pathogenesis for Parkinson's Disease by a Multiomics Analysis.Genes · 2020Pooled it
- Transcriptomic abnormalities in peripheral blood in bipolar disorder, and discrimination of the major psychoses.Schizophrenia research · 2020Pooled it
- Hybrid crosses reveal a cell-type-specific landscape of mouse regulatory variation.bioRxiv : the preprint server for biology · 2026Article
- Peripheral blood RNA-seq analysis in bipolar and schizophrenia spectrum disorders: modest influence of antipsychotic treatment.Frontiers in pharmacology · 2026Article
- Multi-region mNature neuroscience · 2026Article
- Gene expression variation underlying tissue-specific responses to copper stress in Drosophila melanogaster.G3 (Bethesda, Md.) · 2024Article
- Large-Scale Mendelian Randomization Study Reveals Circulating Blood-based Proteomic Biomarkers for Psychopathology and Cognitive Task Performance.medRxiv : the preprint server for health sciences · 2024Article
- Leveraging a surrogate outcome to improve inference on a partially missing target outcome.Biometrics · 2023Article
- BrainGENIE: The Brain Gene Expression and Network Imputation Engine.Translational psychiatry · 2023Article
- Associations of Alzheimer's disease risk variants with gene expression, amyloidosis, tauopathy, and neurodegeneration.Alzheimer's research & therapy · 2021Article
- RNA Biogenesis Instructs Functional Inter-Chromosomal Genome Architecture.Frontiers in genetics · 2021Article
- Gene co-expression networks in peripheral blood capture dimensional measures of emotional and behavioral problems from the Child Behavior Checklist (CBCL).Translational psychiatry · 2020Article
- Identifying 5 Common Psychiatric Disorders Associated Chemicals Through Integrative Analysis of Genome-Wide Association Study and Chemical-Gene Interaction Datasets.Schizophrenia bulletin · 2020Article
- sn-spMF: matrix factorization informs tissue-specific genetic regulation of gene expression.Genome biology · 2020Article
- Cytokines mapping for tissue-specific expression, eQTLs and GWAS traits.Scientific reports · 2020Article
- Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.Nature communications · 2020Article
- Expression quantitative trait loci-derived scores and white matter microstructure in UK Biobank: a novel approach to integrating genetics and neuroimaging.Translational psychiatry · 2020Article
- Using multiple measurements of tissue to estimate subject- and cell-type-specific gene expression.Bioinformatics (Oxford, England) · 2020Article
- Post-GWAS analysis of six substance use traits improves the identification and functional interpretation of genetic risk loci.Drug and alcohol dependence · 2020Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundExpression quantitative trait loci (eQTL) are genomic regions regulating RNA transcript expression levels. Genome-wide Association Studies (GWAS) have identified many variants, often in non-coding regions, with unknown functions and eQTL provide a possible mechanism by which these variants may influence observable phenotypes. Limited access and availability of tissues such as brain has led to the use of blood as a substitute for eQTL analyses.
methodsHere, we evaluate the overlap of eQTL reported in published studies conducted in blood and brain tissues to assess the utility of blood as an alternative to brain tissue in the study of neurological and psychiatric conditions. Expression QTL results from eight published brain studies were compared to blood eQTL identified in from a meta-analysis involving 5,311 individuals. We accounted for differences in SNP platforms and study design by using SNP proxies in high linkage disequilibrium with reported eQTL. The degree of overlap between studies was calculated by ascertaining if an eQTL identified in one study was also identified in the other study.
resultsThe percentage of eQTL overlapping for brain and blood expression after adjusting for differences in sample size ranged from 13 - 23% (mean 19.2%). Amongst pairs of brain studies eQTL overlap ranged from 0 - 35%, with higher degrees of overlap found for studies using expression data collected from the same brain region.
conclusionOur results suggest that whenever possible tissue specific to the pathophysiology of the disease being studied should be used for transcription analysis.
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