ArticleGenome biology and evolution2016
Epigenetic Variability across Human Populations: A Focus on DNA Methylation Profiles of the KRTCAP3, MAD1L1 and BRSK2 Genes.
Article in Genome biology and evolution, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 45 citations in OpenAlex.
- An epigenetic clock for chronological age estimation in East Asian populations.NAR genomics and bioinformatics · 2026Article
- Population epigenetics: deciphering DNA methylation diversity and its implications for health, disease, and evolution.Molecular biology and evolution · 2026Review
- Thanatological Epigenetics as a Postmortem Forensic Tool: A Contextual Call for Epigenetic Clock Research in Asia.Academic forensic pathology · 2026Article
- BRSK2 plays a role in autophagy and cancer cell growth and survival under nutrient deprivation stress via the PIK3C3 pathway.Scientific reports · 2025Article
- Construction of an Immunophenoscore-Related Signature for Evaluating Prognosis and Immunotherapy Sensitivity in Ovarian Cancer.ACS omega · 2023Article
- Bladder Epicheck Test: A Novel Tool to Support Urothelial Carcinoma Diagnosis in Urine Samples.International journal of molecular sciences · 2023Review
- An integrative framework and recommendations for the study of DNA methylation in the context of race and ethnicity.Discover social science and health · 2023Review
- A biosocial return to race? A cautionary view for the postgenomic era.American journal of human biology : the official journal of the Human Biology Council · 2022Review
- Evidence for differences in DNA methylation between Germans and Japanese.International journal of legal medicine · 2022Article
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- Genetic ancestry plays a central role in population pharmacogenomics.Communications biology · 2021Article
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- Characterization of DNA methylation-based markers for human body fluid identification in forensics: a critical review.International journal of legal medicine · 2020Review
- Differences in lipidome and metabolome organization of prefrontal cortex among human populations.Scientific reports · 2019Article
- Genomics of disease risk in globally diverse populations.Nature reviews. Genetics · 2019Review
- The obesity transition: stages of the global epidemic.The lancet. Diabetes & endocrinology · 2019Review
- Loss of SMYD1 Results in Perinatal Lethality via Selective Defects within Myotonic Muscle Descendants.Diseases (Basel, Switzerland) · 2018Article
- ESCC ATLAS: A population wide compendium of biomarkers for Esophageal Squamous Cell Carcinoma.Scientific reports · 2018Article
- Recently evolved human-specific methylated regions are enriched in schizophrenia signals.BMC evolutionary biology · 2018Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 human DNA methylation 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 = 5.2*10 (-) (3); CpG 9 P-value = 2.6*10 (-) (3); CpG 10 P-value = 3.1*10 (-) (3); CpG 11 P-value = 2.8*10 (-) (3)). Comprehensively, these results suggest that DNA methylation diversity is a source of variability in human groups at macro and microgeographical scales and that population demographic and adaptive histories, as well as the individual ancestry, actually influence DNA methylation profiles.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.