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On the relationship between the heritability and the attributable fraction
Elisabeth Dahlqwist1, Patrik K E Magnusson2, Yudi Pawitan2
1Karolinska Institute, Nobels väg 12A, 171 77, Stockholm, Sweden. elisabeth.dahlqwist@ki.se.
Human Genetics
|April 4, 2019
Summary
Heritability, a measure of genetic contribution to disease, is often confused with attributable fraction. This study clarifies their relationship using a liability threshold model and a hypothetical intervention.
Area of Science:
- Genetics
- Epidemiology
- Biostatistics
Background:
- Heritability quantifies genetic contribution to disease variance.
- Heritability for binary traits is complex and prone to misinterpretation as attributable fraction.
- Understanding the distinction is crucial for genetic risk assessment.
Purpose of the Study:
- To analytically describe the relationship between heritability and attributable fraction for binary traits.
- To explore how disease prevalence, intervention effectiveness, and target population size influence this relationship.
- To illustrate the practical implications using real-world examples.
Main Methods:
- Utilizing the liability threshold model.
- Developing a hypothetical intervention to reduce genetic disease risk in a target population.
- Analyzing the interplay between heritability, attributable fraction, disease prevalence, and intervention parameters.
Main Results:
- The relationship between heritability and attributable fraction is dependent on disease prevalence, intervention effect, and target group size.
- Theoretical analysis provides a framework for differentiating the two concepts.
- Illustrative examples demonstrate the practical relevance of the findings.
Conclusions:
- The liability threshold model clarifies the distinction between heritability and attributable fraction.
- Accurate interpretation of heritability is essential for understanding genetic contributions to disease.
- This research provides a foundation for better genetic risk communication and intervention strategies.
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