Disease and phenotype relevant genetic variants identified from histone acetylomes in human hearts

Study ID Alternative Stable ID Type
EGAS00001003586 Other

Study Description

Identifying genetic markers for heterogeneous complex diseases such as heart failure has been challenging, and may require prohibitively large cohort sizes in genome-wide association studies (GWAS) in order to demonstrate statistical significance1. On the other hand, chromatin quantitative trait loci (QTL), elucidated by direct epigenetic profiling of specific human tissues, may contribute towards prioritising variants for disease-association. Here, we captured non-coding genetic variants by performing enhancer H3K27ac ChIP-seq in 70 human control and end-stage failing hearts, mapping out a comprehensive catalogue of 47,321 putative human heart enhancers. 3,897 differential acetylation peaks (FDR < 0.05) pointed to recognizable pathways altered in heart failure (HF). To identify cardiac histone acetylation QTLs (haQTLs), we regressed out confounding factors including HF disease status, and employed the G-SCI test2 to call out 1,680 haQTLs (FDR < 0.1). A subset of these showed significant association to gene expression, either in cis (180), or through long range interactions ... (Show More)

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
This dataset contains 70 human LV H3K27ac ChIP-seq paired-end FASTQ files. The sequencing was performed using Illumina Hiseq 4000.
Illumina HiSeq 4000 70

Who archives the data?

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