The influences of genetic and environmental factors on methylome-wide association studies for human diseases
Open accessAbstract
DNA methylation (DNAm) is an essential epigenetic mechanism for normal development, and its variation may be associated with diseases. High-throughput technology allows robust measurement of DNA methylome in population studies. Methylome-wide association studies (MWAS) scan DNA methylome to detect new epigenetic loci affecting disease susceptibility. MWAS is an emerging approach to unraveling the mechanism linking genetics, environment, and human diseases. Here I review the recent studies of genetic determinants and environmental modifiers of DNAm, and the concept for partitioning genetic and environmental contribution to DNAm. These studies establish the correlation maps between genome and methylome, and enable the interpretation of epigenetic association with disease traits. Recent findings suggested that MWAS was a promising genomic method to identify epigenetic predictors accounting for unexplained disease risk. However, new study designs, analytical methods and shared resources need to be implemented to address the limitations and challenges in future epigenomic epidemiologic studies.
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Epigenetic modifications are shaped by environmental exposures such as smoking and poor nutrition, by genetic factors, and by age.
“Epigenetic modifications are shaped by environmental (e.g. smoking (Breitling, Yang, Korn, Burwinkel, & Brenner, 2011; Shenker et al.; Sun, 2014; Sun, Smith, et al., 2013), poor nutrition(Waterland & Jirtle, 2003), genetic factors (Sun, 2014; D. Zhang et al., 2010), and age – all well known risk factors human diseases”
From Integrative Analysis of Multi-omics Data for Discovery and Functional Studies of Complex Human Diseases (2016) · cites this paper as Sun, 2014
Some blood-based omic markers show associations similar to those in other tissues, such as smoking-related DNA methylation.
“There are reports showing that some blood-based omic makers share similar association as in other tissues (e.g. smoking-related DNA methylation (Sun, 2014))”
From Integrative Analysis of Multi-omics Data for Discovery and Functional Studies of Complex Human Diseases (2016) · cites this paper as Sun, 2014
Many meQTL studies prioritized local genetic associations with DNA methylation sites, which typically had larger effects and required fewer pairwise tests than trans-meQTL analysis.
“Many meQTL studies prioritized on the local genetic associations with DNA methylation sites (i.e. cis-meQTLs), which typically had larger effects and required less number of pair-wise tests than the trans-meQTL analysis (Sun, 2014).”
From Integrative Analysis of Multi-omics Data for Discovery and Functional Studies of Complex Human Diseases (2016) · cites this paper as Sun, 2014
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Flagged first, then by citations
Research works printed but not linked: 1
- [36]Allis CD Epigenetics 2007 CSHL Press
Cited by
Sorted by citations
Sun, Y. V., & Hu, Y.-J. (2016) · Advances in Genetics · doi:10.1016/bs.adgen.2015.11.004 · Cited by 459 · see citing works
Self-citation
- Authors
- Sun, Y. V.
- Affiliations
- Emory University (US)
- Corresponding author
- Sun, Yan V.
- ORCID
- Sun, Yan V.
- Venue
- Current Genetic Medicine Reports
- Published
- 2014-09-25
- Volume
- 2
- Issue
- 4
- Pages
- 261-270
- ISSN
- 2167-4876 (ISSN-L)
- PMC
- PMC4239213
- OpenAlex
- W2149631335
- Cited by
- 27
- References
- 91
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 2 · 2023: 2 · 2022: 2 · 2021: 3 · 2020: 2 · 2019: 3 · 2016: 6 · 2015: 3
- FWCI
- 1.23
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Current Genetic Medicine Reports (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- American Heart Association (13GRNT17060002)
- National Heart, Lung, and Blood Institute (HL100185, RC1HL100245, RC1HL100185)
- National Institute of Environmental Health Sciences (P30ES019776, T32ES012870)
- 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
- Physical Sciences › Environmental Science › Health, Toxicology and Mutagenesis › Health, Environment, Cognitive Aging
- Keywords
- DNA methylation, methylome-wide association study, environmental modifiers
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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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