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Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood
Ting Qi1, Yang Wu1, Jian Zeng1
1Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Nature Communications
|June 13, 2018
Summary
Genetic effects on gene expression and DNA methylation are highly correlated between brain and blood. This finding enhances the discovery of genes linked to brain traits and disorders using large blood-based genetic datasets.
Area of Science:
- Genetics
- Neuroscience
- Epigenetics
Background:
- Understanding genetic regulation differences between brain and blood is crucial for identifying genes associated with brain traits and disorders.
- Genetic correlation (r b ) of cis-expression quantitative trait loci (cis-eQTLs) and cis-methylation quantitative trait loci (cis-mQTLs) between brain and blood is estimated.
Purpose of the Study:
- To estimate the correlation of genetic effects at top cis-eQTLs and cis-mQTLs between brain and blood.
- To assess the utility of blood-based genetic data for discovering genes related to brain phenotypes.
Main Methods:
- Utilized publicly available genetic data to calculate the correlation of genetic effects between independent brain and blood samples.
- Employed meta-analyzed brain cis-eQTL/mQTL data and blood cis-eQTL/mQTL data with varying sample sizes for gene discovery.
Main Results:
- High correlation was observed for genetic effects at top cis-eQTLs (r b ≈ 0.90) and cis-mQTLs (r b ≈ 0.86) between brain and blood.
- Meta-analysis of brain data (n=526–1194) identified 61 genes and 167 DNA methylation sites associated with brain phenotypes.
- Discoveries from brain data were largely a subset of those found using larger blood datasets (n=1980–14,115), which identified 97 genes and 295 DNA methylation sites.
Conclusions:
- Genetic effects on gene expression and DNA methylation show high concordance between brain and blood tissues.
- Leveraging large-scale blood-based genetic data significantly enhances the power for discovering genes associated with brain-related traits and disorders.
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