Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

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http://hdl.handle.net/10138/299797

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eQTLGen Consortium 2018 , ' Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood ' , Nature Communications , vol. 9 , no. 1 . https://doi.org/10.1038/s41467-018-04558-1

Title: Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood
Author: eQTLGen Consortium
Date: 2018
Language: eng
Belongs to series: Nature Communications
ISSN: 2041-1723
URI: http://hdl.handle.net/10138/299797
Abstract: Understanding the difference in genetic regulation of gene expression between brain and blood is important for discovering genes for brain-related traits and disorders. Here, we estimate the correlation of genetic effects at the top-associated cis-expression or -DNA methylation (DNAm) quantitative trait loci (cis-eQTLs or cis-mQTLs) between brain and blood (r b ). Using publicly available data, we find that genetic effects at the top cis-eQTLs or mQTLs are highly correlated between independent brain and blood samples (r b = 0.70 for cis-eQTLs and r ^ b = 0.78 for cis-mQTLs). Using meta-analyzed brain cis-eQTL/mQTL data (n = 526 to 1194), we identify 61 genes and 167 DNAm sites associated with four brain-related phenotypes, most of which are a subset of the discoveries (97 genes and 295 DNAm sites) using data from blood with larger sample sizes (n = 1980 to 14,115). Our results demonstrate the gain of power in gene discovery for brain-related phenotypes using blood cis-eQTL/mQTL data with large sample sizes. © 2018 The Author(s).
Subject: blood
brain
data set
gene
gene expression
methylation
phenotype
RNA
article
DNA methylation
expression quantitative trait locus
major clinical study
quantitative analysis
sample size
enhancer region
gene expression regulation
genetic marker
genetics
genome-wide association study
human
meta analysis
metabolism
promoter region
quantitative trait locus
tissue distribution
DNA
transcriptome
Brain
DNA Methylation
Enhancer Elements, Genetic
Gene Expression Regulation
Genetic Markers
Genome-Wide Association Study
Humans
Phenotype
Promoter Regions, Genetic
Quantitative Trait Loci
Tissue Distribution
Transcriptome
3111 Biomedicine
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