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An integrated -omics analysis of the epigenetic landscape of gene expression in human blood cells.


ABSTRACT: BACKGROUND:Gene expression can be influenced by DNA methylation 1) distally, at regulatory elements such as enhancers, as well as 2) proximally, at promoters. Our current understanding of the influence of distal DNA methylation changes on gene expression patterns is incomplete. Here, we characterize genome-wide methylation and expression patterns for ~?13 k genes to explore how DNA methylation interacts with gene expression, throughout the genome. RESULTS:We used a linear mixed model framework to assess the correlation of DNA methylation at ~?400 k CpGs with gene expression changes at ~?13 k transcripts in two independent datasets from human blood cells. Among CpGs at which methylation significantly associates with transcription (eCpGs), >?50% are distal (>?50 kb) or trans (different chromosome) to the correlated gene. Many eCpG-transcript pairs are consistent between studies and ~?90% of neighboring eCpGs associate with the same gene, within studies. We find that enhancers (P?

SUBMITTER: Kennedy EM 

PROVIDER: S-EPMC6006777 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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An integrated -omics analysis of the epigenetic landscape of gene expression in human blood cells.

Kennedy Elizabeth M EM   Goehring George N GN   Nichols Michael H MH   Robins Chloe C   Mehta Divya D   Klengel Torsten T   Eskin Eleazar E   Smith Alicia K AK   Conneely Karen N KN  

BMC genomics 20180619 1


<h4>Background</h4>Gene expression can be influenced by DNA methylation 1) distally, at regulatory elements such as enhancers, as well as 2) proximally, at promoters. Our current understanding of the influence of distal DNA methylation changes on gene expression patterns is incomplete. Here, we characterize genome-wide methylation and expression patterns for ~ 13 k genes to explore how DNA methylation interacts with gene expression, throughout the genome.<h4>Results</h4>We used a linear mixed mo  ...[more]

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