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DNA methylation contributes to natural human variation
Open accessAbstract
DNA methylation patterns are important for establishing cell, tissue, and organism phenotypes, but little is known about their contribution to natural human variation. To determine their contribution to variability, we have generated genome-scale DNA methylation profiles of three human populations (Caucasian-American, African-American, and Han Chinese-American) and examined the differentially methylated CpG sites. The distinctly methylated genes identified suggest an influence of DNA methylation on phenotype differences, such as susceptibility to certain diseases and pathogens, and response to drugs and environmental agents. DNA methylation differences can be partially traced back to genetic variation, suggesting that differentially methylated CpG sites serve as evolutionarily established mediators between the genetic code and phenotypic variability. Notably, one-third of the DNA methylation differences were not associated with any genetic variation, suggesting that variation in population-specific sites takes place at the genetic and epigenetic levels, highlighting the contribution of epigenetic modification to natural human variation.
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“Only Caucasian individuals were eligible for study participation based on evidence that DNA methylation varies across race/ethnicity (Bakermans-Kranenburg, & Van Iljezdoorn, 2014; Heyn, et al., 2013; Liu et al., 2010).”
From Associations between oxytocin receptor gene (OXTR) methylation, plasma oxytocin, and attachment across adulthood (2019) · cites this paper as Heyn, et al., 2013
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“Being the first adult developmental examination into this topic, we held race/ethnicity constant to only Caucasian participants based on evidence that DNA methylation varies across race/ethnicity (Bakermans-Kranenburg & Van Iljezdoorn, 2014, Heyn, et al., 2013, Liu et al., 2010).”
From Associations between oxytocin receptor gene (OXTR) methylation, plasma oxytocin, and attachment across adulthood (2019) · cites this paper as Heyn, et al., 2013
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The role of regulatory variation in complex traits and disease
Albert, F. W., & Kruglyak, L. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3891 · Cited by 1,047
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Self-citationSystematic identification of genetic influences on methylation across the human life course
Gaunt, T. R., Shihab, H. A., Hemani, G., Min, J. L., Woodward, G., Lyttleton, O., Zheng, J., Duggirala, A., McArdle, W. L., Ho, K., et al. (2016) · Genome Biology · doi:10.1186/s13059-016-0926-z · Cited by 598
Metadata
- Authors
- Heyn, H., Moran, S., Hernando-Herraez, I., Sayols, S., Gomez, A., Sandoval, J., Monk, D., Hata, K., Marques-Bonet, T., Wang, L., & Esteller, M.
- Affiliations
- Institut d'Investigació Biomédica de Bellvitge (ES)
- Consejo Superior de Investigaciones Científicas (ES)
- National Research Institute for Child Health and Development (JP)
- Mayo Clinic (US)
- Institució Catalana de Recerca i Estudis Avançats (ES)
- Corresponding author
- Wang, Liewei
- Esteller, Manel
- ORCID
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2013-08-01
- Volume
- 23
- Issue
- 9
- Pages
- 1363-1372
- ISSN
- 1088-9051 (ISSN-L)
- PMC
- PMC3759714
- OpenAlex
- W2095727856
- Cited by
- 408
- References
- 59
- Citations by year
- 2026: 8 · 2025: 18 · 2024: 22 · 2023: 23 · 2022: 34 · 2021: 19 · 2020: 40 · 2019: 29 · 2018: 49 · 2017: 40 · 2016: 46 · 2015: 54 · 2014: 22 · 2013: 3
- Type
- posted content
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- other-oa
- Locations
- Genome Research (publishedVersion, other-oa)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- RECERCAT (Consorci de Serveis Universitaris de Catalunya) (publishedVersion, other-oa)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion, cc-by-nc)
- Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona) (submittedVersion, cc-by-nc)
- HighWire Press Open Archive (submittedVersion)
- Repositori digital de la UPF (Universitat Pompeu Fabra) (submittedVersion, cc-by-nc)
- Funders
- Fundación Cellex (SAF2011-22803)
- European Commission (282510)
- Generalitat de Catalunya
- Institució Catalana de Recerca i Estudis Avançats
- Ministerio de Ciencia e Innovación (SAF2011-22803, BFU2011-28549)
- National Institutes of Health (GM61388)
- National Cancer Institute (CA138461, R01CA138461)
- National Institute of General Medical Sciences (U01GM061388, U19GM061388, GM61388)
- FP7 Ideas: European Research Council (268626, 260372)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- DNA methylation, differentially methylated CpG sites, epigenetic inheritance, genetic variation, disease susceptibility, drug response, phenotypic variability, African Americans, Han Chinese, White Americans
- MeSH terms
- Adult, Asian, Black or African American, Female, Humans, Male, Population, Genetic Variation, Genome, Human, DNA Methylation, Quantitative Trait Loci, Epigenesis, Genetic, White People, Genome-Wide Association Study
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