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

Ting Qi, eQTLGen Consortium

Research output: Contribution to journalArticle (Academic Journal)peer-review

239 Citations (Scopus)
438 Downloads (Pure)

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.

Original languageEnglish
Article number2282
Number of pages12
JournalNature Communications
Volume9
DOIs
Publication statusPublished - 11 Jun 2018

Fingerprint

Dive into the research topics of 'Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood'. Together they form a unique fingerprint.

Cite this