ArticleGenome biology2018
Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders.
Article in Genome biology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers, 2 of them syntheses that pooled it.
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Who cites it
98 citing papers in PubMed, 2 syntheses or guidelines pooled it, 170 citations in OpenAlex.
- Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes.Nature genetics · 2023Pooled it
- The genetic architecture of the human cerebral cortex.Science (New York, N.Y.) · 2020Pooled it
- Rethinking schizophrenia: insights from genomics and implications for research.Molecular psychiatry · 2026Review
- Dynamic neuro-immune regulation of psychiatric risk loci in human neurons.Nature communications · 2026Article
- Genomic dimensions deconstruct the clinical heterogeneity of bipolar disorder.Research square · 2026Article
- BMI-genome interactions regulate global gene expression with emphasis in brain and gut.Cell genomics · 2026Article
- Integrating dorsolateral prefrontal cortex multi-omics and GWAS summary data reveals genetic etiology of Parkinson's disease.Research square · 2026Article
- Integrating dorsolateral prefrontal cortex multi-omics and GWAS summary data reveals genetic etiology of Parkinson's disease.medRxiv : the preprint server for health sciences · 2026Article
- Age-varying DNA methylation patterns associated with blood pressure in mid-to-late adulthood.Clinical epigenetics · 2026Article
- Leveraging genomic and transcriptomic data of diverse ancestry to uncover mechanisms of psychiatric risk in the adult and developing brain.Nature communications · 2025Article
- Age-varying DNA methylation patterns associated with blood pressure across the lifespan.bioRxiv : the preprint server for biology · 2025Article
- Transcriptomic Analysis of the Human Habenula in Schizophrenia.The American journal of psychiatry · 2025Article
- Multi-Omics Advances in Major Depressive Disorder for Molecular Insights, Biomarker Discovery, and Therapeutic Development.Aging and disease · 2025Review
- Whole-exome sequencing analysis identifies risk genes for schizophrenia.Nature communications · 2025Article
- Integrative multi-omics data from early development to identify the genes and cell types underlying attention-deficit/hyperactivity disorder.BMC psychiatry · 2025Article
- Early establishment and life course stability of sex biases in the human brain transcriptome.Cell genomics · 2025Article
- Psychiatric Genomics 2025: State of the Art and the Path Forward.The Psychiatric clinics of North America · 2025Review
- Trans-eQTL hotspots shape complex traits by modulating cellular states.Cell genomics · 2025Article
- Cross-ancestry and sex-stratified genome-wide association analyses of amygdala and subnucleus volumes.Nature genetics · 2025Article
- Investigating the shared genetic architecture between obesity and depression: a large-scale genomewide cross-trait analysis.Frontiers in endocrinology · 2025Article
38 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundGenetic influences on gene expression in the human fetal brain plausibly impact upon a variety of postnatal brain-related traits, including susceptibility to neuropsychiatric disorders. However, to date, there have been no studies that have mapped genome-wide expression quantitative trait loci (eQTL) specifically in the human prenatal brain.
resultsWe performed deep RNA sequencing and genome-wide genotyping on a unique collection of 120 human brains from the second trimester of gestation to provide the first eQTL dataset derived exclusively from the human fetal brain. We identify high confidence cis-acting eQTL at the individual transcript as well as whole gene level, including many mapping to a common inversion polymorphism on chromosome 17q21. Fetal brain eQTL are enriched among risk variants for postnatal conditions including attention deficit hyperactivity disorder, schizophrenia, and bipolar disorder. We further identify changes in gene expression within the prenatal brain that potentially mediate risk for neuropsychiatric traits, including increased expression of C4A in association with genetic risk for schizophrenia, increased expression of LRRC57 in association with genetic risk for bipolar disorder, and altered expression of multiple genes within the chromosome 17q21 inversion in association with variants influencing the personality trait of neuroticism.
conclusionsWe have mapped eQTL operating in the human fetal brain, providing evidence that these confer risk to certain neuropsychiatric disorders, and identifying gene expression changes that potentially mediate susceptibility to these conditions.
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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.