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Title: | CARDIAC EPIGENETICS: THE BIOLOGY OF NON-CODING ENHANCERS IN HUMAN HEARTS | Authors: | TAN LEK WEN | ORCID iD: | orcid.org/0000-0002-5054-8512 | Keywords: | cardiac epigenetics, non-coding variants, haQTL, GWAS, enhancer, H3K27ac | Issue Date: | 8-Jan-2020 | Citation: | TAN LEK WEN (2020-01-08). CARDIAC EPIGENETICS: THE BIOLOGY OF NON-CODING ENHANCERS IN HUMAN HEARTS. ScholarBank@NUS Repository. | Abstract: | Identifying genetic markers for heart failure is challenging, and requires prohibitively large cohort sizes in genome-wide association studies in order to meet genome-wide statistical significance. Chromatin quantitative trait loci, elucidated by direct epigenetic profiling of specific human tissues, may contribute towards prioritizing variants for disease-association. Here, I carried out a series of projects with colleagues to capture non-coding genetic variants by performing epigenetic profiling in 70 human hearts. This mapped a comprehensive catalogue of 47,321 human heart enhancers. To identify cardiac histone acetylation quantitative trait loci(haQTL), G-SCI test employed to call out 1,680 haQTL. RNA-seq from the same heart samples proved haQTL to have significant association to gene expression in cis and through long range interactions, identified by Hi-C experiments. Finally, 62 haQTL were identified by colocalisation of haQTL with heart-related GWAS datasets. Mechanistically, these may indeed be mediated through modification of enhancer H3K27-acetylation and their corresponding gene regulation. | URI: | https://scholarbank.nus.edu.sg/handle/10635/182545 |
Appears in Collections: | Ph.D Theses (Open) |
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