Why the missing heritability might not be in the DNA
Pierrick Bourrat1,2, Qiaoying Lu3, Eva Jablonka4
1Macquarie University - Philosophy, New South Wales, Australia.
Summary
Missing heritability, the gap between genetic and observed traits, may be explained by epigenetic factors. Incorporating these non-DNA influences (H4) could increase heritability estimates, resolving discrepancies found in genome-wide association studies (GWAS).
Area of Science:
- Genetics
- Epigenetics
- Quantitative Biology
Background:
- Genome-wide association studies (GWAS) have identified genetic variants associated with traits, but a significant portion of trait heritability remains unexplained, a phenomenon known as 'missing heritability'.
- Existing hypotheses (H1-H3) attempt to explain this gap through various genetic mechanisms, but none fully account for the observed discrepancies.
Purpose of the Study:
- To propose and evaluate a fourth hypothesis (H4) that integrates non-DNA, epigenetic sources of heritability.
- To investigate whether accounting for epigenetic factors can resolve the missing heritability problem.
Main Methods:
- Review and synthesis of existing hypotheses regarding missing heritability.
- Theoretical framework development for incorporating epigenetic contributions into heritability estimations.
Main Results:
- Current genome-wide association studies (GWAS) likely underestimate heritability by excluding non-DNA, epigenetic influences.
- The proposed hypothesis (H4) suggests that epigenetic factors play a crucial role in trait inheritance.
Conclusions:
- Epigenetic modifications represent a significant, previously overlooked source of heritability.
- Integrating epigenetic data into heritability models is essential for a comprehensive understanding of trait inheritance and for resolving the missing heritability issue.
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