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

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Original languageEnglish
Article number2282
Pages (from-to)1-12
JournalNature Communications
Issue number1
Early online date11 Jun 2018
Publication statusPublished - 11 Jun 2018


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 (rˆb=0.70 for cis-eQTLs and rˆb=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.

    Research areas

  • DNA methylation, gene regulation, genetics of the nervous system, genome-wide association studies

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