Epigenomes of Human Hearts Reveal New Genetic Variants Relevant for Cardiac Disease and Phenotype.

ABSTRACT:

Rationale

Identifying genetic markers for heterogeneous complex diseases such as heart failure is challenging and requires prohibitively large cohort sizes in genome-wide association studies to meet the stringent threshold of genome-wide statistical significance. On the other hand, chromatin quantitative trait loci, elucidated by direct epigenetic profiling of specific human tissues, may contribute toward prioritizing subthreshold variants for disease association.

Objective

Here, we captured noncoding genetic variants by performing epigenetic profiling for enhancer H3K27ac chromatin immunoprecipitation followed by sequencing in 70 human control and end-stage failing hearts.

Methods and results

We have mapped a comprehensive catalog of 47 321 putative human heart enhan

SUBMITTER: Tan WLW 

PROVIDER: S-EPMC10935612 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature