Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood
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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 |
| Contributor organization: | Institute for Molecular Medicine Finland University Management Centre of Excellence in Complex Disease Genetics Department of Public Health Doctoral Programme in Population Health Samuli Olli Ripatti / Principal Investigator Biostatistics Helsinki Complex Disease Genetics |
| Date: | 2018 |
| Language: | eng |
| Belongs to series: | Nature Communications |
| ISSN: | 2041-1723 |
| DOI: | https://doi.org/10.1038/s41467-018-04558-1 |
| 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 |
| Peer reviewed: | Yes |
| Rights: | cc_by |
| Usage restriction: | openAccess |
| Self-archived version: | publishedVersion |
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