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Dryad

Data from: Co-occurring expression and methylation QTLs allow detection of common causal variants and shared biological mechanisms

Cite this dataset

Pierce, Brandon L. et al. (2019). Data from: Co-occurring expression and methylation QTLs allow detection of common causal variants and shared biological mechanisms [Dataset]. Dryad. https://doi.org/10.5061/dryad.hq68q

Abstract

Inherited genetic variation affects local gene expression and DNA methylation in humans. Most expression quantitative trait loci (cis-eQTLs) occur at the same genomic location as methylation QTLs (cis-meQTLs), suggesting a common causal variant and shared mechanism. Using DNA and RNA from peripheral blood of Bangladeshi individuals, here we use co-localization methods to identify eQTL-meQTL pairs likely to share a causal variant. We use partial correlation and mediation analyses to identify >400 of these pairs showing evidence of a causal relationship between expression and methylation (i.e., shared mechanism) with many additional pairs we are underpowered to detect. These co-localized pairs are enriched for SNPs showing opposite associations with expression and methylation, although a many SNPs affect multiple CpGs in opposite directions. This work demonstrates the pervasiveness of co-regulated expression and methylation in the human genome. Applying this approach to other types of molecular QTLs can enhance our understanding of regulatory mechanisms.

Usage notes

Location

Bangladesh