Systemic interindividual epigenetic variation in humans is associated with transposable elements and under strong genetic control.

ABSTRACT:

Background

Genetic variants can modulate phenotypic outcomes via epigenetic intermediates, for example at methylation quantitative trait loci (mQTL). We present the first large-scale assessment of mQTL at human genomic regions selected for interindividual variation in CpG methylation, which we call correlated regions of systemic interindividual variation (CoRSIVs). These can be assayed in blood DNA and do not reflect interindividual variation in cellular composition.

Results

We use target-capture bisulfite sequencing to assess DNA methylation at 4086 CoRSIVs in multiple tissues from each of 188 donors in the NIH Gene-Tissue Expression (GTEx) program. At CoRSIVs, DNA methylation in peripheral blood correlates with methylation and gene expression in internal organs. We also di

SUBMITTER: Gunasekara CJ 

PROVIDER: S-EPMC9835319 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature