Genetics of Epigenetics
Epigenetics involves heritable changes in gene expression without DNA sequence changes, through DNA methylation, histone modification, and chromatin remodelling. Genetic variants in epigenetic regulators may influence gene expression patterns relevant to immune function and chronic illness.
This page is for educational and informational purposes only. Not a diagnostic tool. Always consult a qualified healthcare provider.
What is Epigenetics?
Epigenetic mechanisms regulate gene expression by modifying chromatin accessibility without altering DNA sequence. DNA methylation (primarily at CpG sites), histone acetylation/deacetylation, and histone methylation collectively determine which genes are expressed in a given cell type and physiological context. Genetic variants in epigenetic regulator genes — including DNMT3A, TET2, HDAC enzymes, and EZH2 — can alter genome-wide epigenetic patterns, with implications for immune cell differentiation, inflammatory responses, and susceptibility to chronic conditions.
Biological pathways commonly discussed in relation to Epigenetics
Research into Epigenetics and Gene Expression Regulation has highlighted several biological pathways that may be relevant. Genetic variants within these pathways may influence individual susceptibility, symptom severity, or the trajectory of the condition.
Dna Methylation Pathway
DNMT1, DNMT3A, DNMT3B methylate cytosines in DNA, while TET enzymes (TET1, TET2) demethylate them. Variants in these enzymes alter genome-wide methylation patterns and gene expression profiles.
Histone Modification
HDAC enzymes remove acetyl groups from histones, promoting chromatin compaction and gene silencing. EZH2 adds repressive H3K27me3 marks. Variants affect the balance of active and repressed chromatin.
Chromatin Remodelling
SWI/SNF complex subunits (ARID1A, SMARCA4) remodel chromatin accessibility. Variants affecting chromatin remodelling alter transcription factor access to regulatory elements.
Epigenetic Immune
Epigenetic regulation is critical for immune cell differentiation and activation. DNMT3A and TET2 variants affect immune cell epigenomes, with implications for immune function and haematological malignancy risk.
Key genes studied in relation to Epigenetics
The following genes have been studied in relation to Epigenetics and Gene Expression Regulation. These genes span the biological pathways most commonly discussed in this area of research.
Genetic variants commonly discussed
The following genetic variants (SNPs) are found in genes that have been studied in relation to Epigenetics. Each variant represents a position in the genome where individuals may carry different alleles.
10 variants total across genes studied in relation to Epigenetics.
How personal DNA data may provide educational insights
Consumer DNA files from 23andMe, AncestryDNA, and MyHeritage contain raw SNP data. When you upload your file to ChronicDNA, the analysis engine checks your genotype against a curated panel of 80+ genes selected for their relevance to Long COVID, ME/CFS, and connected biological pathways - some of which may relate to areas such as Epigenetics.
This is not a diagnostic service. Genetic variants do not determine whether you have Epigenetics, nor do they predict your clinical outcomes. The report is educational - it explains which variants you carry, what the research says about them, and how they fit into the biological pathways most relevant to chronic illness. All results should be discussed with a qualified healthcare provider.
Related conditions and pathways
Epigenetics shares biological pathways and genetic associations with the following related conditions and areas of research.
Frequently asked questions
What is epigenetics and how does it relate to chronic illness?
Epigenetics refers to heritable changes in gene expression without DNA sequence changes. Chronic illness conditions including Long COVID may alter epigenetic patterns — particularly DNA methylation — in immune cells, potentially locking in dysregulated gene expression states.
How do methylation genetics relate to epigenetic methylation?
These are related but distinct concepts. Genetic methylation (as in MTHFR) refers to biochemical methylation reactions in the methionine cycle. Epigenetic DNA methylation refers to cytosine methylation controlling gene expression. SAM — produced by the methionine cycle — provides the methyl groups for epigenetic DNA methylation, connecting both systems.
Which epigenetic regulator genes are most studied?
Key genes include DNMT3A, TET2, HDAC1, HDAC2, EZH2, KDM5C, ARID1A, and SMARCA4. DNMT3A and TET2 are particularly relevant because they are commonly somatically mutated in clonal haematopoiesis, influencing immune cell function.
What is clonal haematopoiesis and why is it relevant to Long COVID?
Clonal haematopoiesis refers to the expansion of blood cell clones carrying somatic mutations — commonly in DNMT3A or TET2. These clones produce immune cells with altered epigenomes and inflammatory tendencies, and clonal haematopoiesis has been associated with increased cardiovascular and inflammatory disease risk. Its role in Long COVID is an area of emerging research.
Explore DNA insights
If you already have DNA data from 23andMe, AncestryDNA, or MyHeritage, upload your raw file to ChronicDNA and receive a personalised educational report covering genes studied in relation to Epigenetics and connected biological pathways.
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7 genes · 10 variants analysed in relation to Epigenetics