Epigenetic variability across human populations: A Focus on DNA Methylation Profiles of the KRTCAP3, MAD1L1 and BRSK2 Genes

Cristina Giuliani, Marco Sazzini, Maria Giulia Bacalini, Chiara Pirazzini, Elena Marasco, Elisa Fontanesi, Claudio Franceschi, Donata Luiselli, Paolo Garagnani

Research output: Contribution to journalArticlepeer-review


Natural epigenetic diversity has been suggested as a key mechanism in microevolutionary processes due to its capability to create phenotypic variability within individuals and populations. It constitutes an important reservoir of variation potentially useful for rapid adaptation in response to environmental stimuli. The analysis of population epigenetic structure represents a possible tool to study human adaptation and to identify external factors that are able to naturally shape humanDNAmethylation variability. The aim of this study is to investigate the dynamics that create epigenetic diversity between and within different human groups. To this end, we first used publicly available epigenome-wide data to explore population-specific DNA methylation changes that occur at macro-geographic scales. Results from this analysis suggest that nutrients, UVA exposure and pathogens load might represent the main environmental factors able to shape DNA methylation profiles. Then, we evaluated DNA methylation of candidate genes (KRTCAP3, MAD1L1, and BRSK2), emerged from the previous analysis, in individuals belonging to different populations from Morocco, Nigeria, Philippines, China, and Italy, but living in the same Italian city. DNA methylation of the BRSK2 gene is significantly different between Moroccans and Nigerians (pairwise t-Test: CpG 6 P-value =5.210 3; CpG 9 P-value =2.610 3; CpG 10 Pvalue= 3.110 3; CpG11 P-value= 2.810 3). Comprehensively, these results suggest that DNA methylation diversity is a source of variability inhumangroups atmacroandmicrogeographical scalesandthat populationdemographic andadaptive histories, as well as the individual ancestry, actually influence DNA methylation profiles.

Original languageEnglish
Pages (from-to)2760-2773
Number of pages14
JournalGenome Biology and Evolution
Issue number9
Publication statusPublished - 2016


  • DNA methylation variability
  • environmental interaction
  • human adaptation
  • population epigenetics

ASJC Scopus subject areas

  • Medicine(all)
  • Ecology, Evolution, Behavior and Systematics
  • Genetics


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