Capturing functional epigenomes for insight into metabolic diseases

Publication date: Available online 14 February 2020Source: Molecular MetabolismAuthor(s): Fiona Allum, Elin GrundbergAbstractBackgroundMetabolic diseases such as obesity are known to be driven by both environmental and genetic factors. Although genome-wide association studies of common variants and their impact in complex traits have provided some biological insight into disease etiology, identified genetic variants have been found to contribute only a small proportion to disease heritability and to map mainly to non-coding regions of the genome. In order to link variants to function, association studies of cellular traits, such as epigenetic marks, in disease-relevant tissues are commonly applied.Scope of the review: We review large-scale efforts to generate genome-wide maps of coordinated epigenetic marks and their utility in complex disease dissection with a focus on DNA methylation. We contrast DNA methylation profiling methods and discuss the advantages of using targeted methods for single-base resolution assessments of methylation levels across tissue-specific regulatory regions to deepen our understanding of contributing factors leading to complex diseases.Major conclusionsLarge-scale assessments of DNA methylation patterns in metabolic disease-linked study cohorts have provided insight into the impact of variable epigenetic variants in disease etiology. In depth profiling of epigenetic marks at regulatory regions, particularly at tissue-specific elements, will be key ...
Source: Molecular Metabolism - Category: Endocrinology Source Type: research