Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

J Bryois, D Calini, W Macnair, L Foo, E Urich… - Nature …, 2022 - nature.com
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …

[HTML][HTML] Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

DG Hernandez, MA Nalls, M Moore, S Chong… - Neurobiology of …, 2012 - Elsevier
Genome-wide association studies have nominated many genetic variants for common
human traits, including diseases, but in many cases the underlying biological reason for a …

Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases

N de Klein, EA Tsai, M Vochteloo, D Baird, Y Huang… - Nature …, 2023 - nature.com
Identification of therapeutic targets from genome-wide association studies (GWAS) requires
insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing …

Genetic variability in the regulation of gene expression in ten regions of the human brain

A Ramasamy, D Trabzuni, S Guelfi, V Varghese… - Nature …, 2014 - nature.com
Germ-line genetic control of gene expression occurs via expression quantitative trait loci
(eQTLs). We present a large, exon-specific eQTL data set covering ten human brain regions …

[PDF][PDF] Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis

N Aygün, AL Elwell, D Liang, MJ Lafferty… - The American Journal of …, 2021 - cell.com
Interpretation of the function of non-coding risk loci for neuropsychiatric disorders and brain-
relevant traits via gene expression and alternative splicing quantitative trait locus (e/sQTL) …

A meta-analysis of gene expression quantitative trait loci in brain

Y Kim, K Xia, R Tao, P Giusti-Rodriguez… - Translational …, 2014 - nature.com
Current catalogs of brain expression quantitative trait loci (eQTL) are incomplete and the
findings do not replicate well across studies. All existing cortical eQTL studies are small and …

Multi-ancestry eQTL meta-analysis of human brain identifies candidate causal variants for brain-related traits

B Zeng, J Bendl, R Kosoy, JF Fullard, GE Hoffman… - Nature …, 2022 - nature.com
While large-scale, genome-wide association studies (GWAS) have identified hundreds of
loci associated with brain-related traits, identification of the variants, genes and molecular …

Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants

F Zou, HS Chai, CS Younkin, M Allen, J Crook… - PLoS …, 2012 - journals.plos.org
Genetic variants that modify brain gene expression may also influence risk for human
diseases. We measured expression levels of 24,526 transcripts in brain samples from the …

Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits

F Hormozdiari, S Gazal, B Van De Geijn, HK Finucane… - Nature …, 2018 - nature.com
There is increasing evidence that many risk loci found using genome-wide association
studies are molecular quantitative trait loci (QTLs). Here we introduce a new set of functional …

[HTML][HTML] Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders

HE O'Brien, E Hannon, MJ Hill… - Genome …, 2018 - genomebiology.biomedcentral.com
Genetic influences on gene expression in the human fetal brain plausibly impact upon a
variety of postnatal brain-related traits, including susceptibility to neuropsychiatric disorders …