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Association between DNA methylation variability and self-reported exposure to heavy metals
Anna Freydenzon1, Marta F Nabais1,2, Tian Lin1
1Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Scientific Reports
|June 22, 2022
Summary
Self-reported environmental exposures, like cadmium and mercury, were linked to DNA methylation changes in amyotrophic lateral sclerosis (ALS) patients. This study shows potential for using exposure histories to find methylation differences, but notes confounding factors.
Area of Science:
- Environmental Epigenetics
- Neurodegenerative Diseases
Background:
- Environmental exposures vary widely and can be difficult to quantify.
- Understanding the link between environmental factors and health outcomes like amyotrophic lateral sclerosis (ALS) is crucial.
- DNA methylation is a key epigenetic mechanism influenced by environmental exposures.
Purpose of the Study:
- To assess the utility of lifetime self-reported environmental exposures in identifying differential DNA methylation.
- To investigate associations between specific exposures and methylation patterns in an ALS case-control cohort.
Main Methods:
- Utilized a case-control cohort of 855 individuals with amyotrophic lateral sclerosis (ALS).
- Collected lifetime environmental exposure and occupational histories via paper surveys and whole blood samples.
- Quantified genome-wide DNA methylation using the Illumina Infinium Human Methylation450 array and analyzed data with OSCA software linear and MOA models.
Main Results:
- Identified significant associations between DNA methylation probes and exposures including cadmium, mercury, and metalwork using MOA and linear models.
- One significant association was found with a principal component representing chemical exposures.
- Extreme hyper/hypo-methylation in a few individuals drove methylome-wide significance for some markers.
Conclusions:
- Self-reported exposure histories show potential for detecting environmental-induced DNA methylation changes.
- Environmental exposure data in cohort studies can be confounded, requiring careful analysis.
- Further research is needed to refine methods for linking environmental exposures to epigenetic modifications.

