Abstract
BackgroundIn recent years, epigenetics has gained a central role in the understanding of the process of natural selection. It is now clear how environmental impacts on the methylome could promote methylation variability with direct effects on disease etiology as well as phenotypic and genotypic variations in evolutionary processes. To identify possible factors influencing inter-individual methylation variability, we studied methylation values standard deviation of 166 healthy individuals searching for possible associations with genomic features and evolutionary signatures.ResultsWe analyzed methylation variability values in relation to CpG cluster density and we found a strong association between them (p-value < 2.2 × 10− 16). Furthermore, we found that genes related to CpGs with high methylation variability values were enriched for immunological pathways; instead, those associated with low ones were enriched for pathways related to basic cellular functions. Finally, we found an association between methylation variability values and signals of both ancient (p-value < 2.2 × 10− 16) and recent selective pressure (p-value < 1 × 10− 4).ConclusionOur results indicate the presence of an intricate interplay between genetics, epigenetic code and evolutionary constraints in humans.
Highlights
In recent years, epigenetics has gained a central role in the understanding of the process of natural selection
It is our opinion that a better knowledge of the variable nature of the methylation could improve our understanding of many biological processes; to this aim, we investigated possible novel sources of methylation variation, such as genomic structural landscape, biological pathways and selective pressure
Inter-individual Methylation variability is related to CpG cluster density In this study, we chose the standard deviation as a measure to study CpGs inter-individual methylation variability (MV)
Summary
Epigenetics has gained a central role in the understanding of the process of natural selection It is clear how environmental impacts on the methylome could promote methylation variability with direct effects on disease etiology as well as phenotypic and genotypic variations in evolutionary processes. The hypothesis that this modification could persist across generations is counterintuitive, especially if we consider the demethylation process that occurs during the epigenetic reprogramming in the mammal’s embryonic development [2]. Despite these considerations, there is emerging evidence showing that methylation could be inherited over generations [3]. The Palumbo et al BMC Genomics (2018) 19:229
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
