A twin approach to unraveling epigenetics
Open accessAbstract
The regulation of gene expression plays a pivotal role in complex phenotypes, and epigenetic mechanisms such as DNA methylation are essential to this process. The availability of next-generation sequencing technologies allows us to study epigenetic variation at an unprecedented level of resolution. Even so, our understanding of the underlying sources of epigenetic variability remains limited. Twin studies have played an essential role in estimating phenotypic heritability, and these now offer an opportunity to study epigenetic variation as a dynamic quantitative trait. High monozygotic twin discordance rates for common diseases suggest that unexplained environmental or epigenetic factors could be involved. Recent genome-wide epigenetic studies in disease-discordant monozygotic twins emphasize the power of this design to successfully identify epigenetic changes associated with complex traits. We describe how large-scale epigenetic studies of twins can improve our understanding of how genetic, environmental and stochastic factors impact upon epigenetics, and how such studies can provide a comprehensive understanding of how epigenetic variation affects complex traits.
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Contrasting the phenotypes of discordant and monozygotic twins enables control of genetic factors, providing a powerful strategy to identify disease-associated environmental factors, independent of underlying genomic sequence variation.
“In particular, contrasting the phenotypes of discordant and monozygotic twins enables control of genetic factors, providing a powerful strategy to identify disease-associated environmental factors, independent of underlying genomic sequence variation [271].”
From The contribution of environmental exposure to the etiology of autism spectrum disorder (2019) · cites this paper as [271]
Investigating family members, especially contrasting discordant monozygotic (MZ) twins, is a powerful strategy for uncovering disease-associated environmental factors independent of underlying genomic sequence variation.
“Investigating family members, especially contrasting discordant monozygotic (MZ) twins, is a powerful strategy for uncovering disease-associated environmental factors independent of underlying genomic sequence variation12.”
From Fetal and postnatal metal dysregulation in autism (2017) · cites this paper as [12]
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Variation in the Human Immune System Is Largely Driven by Non-Heritable Influences
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- Authors
- Bell, J. T., & Spector, T. D.
- Affiliations
- St Thomas' Hospital (GB)
- Corresponding author
- Bell, Jordana T.
- Spector, Tim D.
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 2011-03
- Volume
- 27
- Issue
- 3
- Pages
- 116-125
- ISSN
- 0168-9525 (ISSN-L)
- PMC
- PMC3063335
- OpenAlex
- W2031724786
- Cited by
- 353
- References
- 113
- Citations by year
- 2026: 10 · 2025: 10 · 2024: 7 · 2023: 9 · 2022: 14 · 2021: 18 · 2020: 16 · 2019: 12 · 2018: 24 · 2017: 18 · 2016: 20 · 2015: 46 · 2014: 29 · 2013: 47 · 2012: 51
- FWCI
- 4.30
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Trends in Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research Portal (King's College London) (submittedVersion)
- Funders
- Wellcome Trust
- National Institute for Health and Care Research
- National Institutes of Health
- 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
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Assisted Reproductive Technology and Twin Pregnancy
- Keywords
- epigenetics, twin studies, monozygotic twin discordance, DNA methylation, epigenetic variation, gene expression regulation, complex traits, heritability, environmental factors, stochastic factors, disease
- MeSH terms
- Environment, Humans, Phenotype, Twins, Genetic Variation, Twin Studies as Topic, Epigenomics
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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