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Principled measures and estimates of trait polygenicity.
Luke J O'Connor1,2, Guy Sella3,4
1Department of Biomedical Informatics, Harvard Medical School, Boston, MA.
Biorxiv : the Preprint Server for Biology
|August 12, 2025
Summary
We propose a principled definition for trait polygenicity, offering a framework to quantify genetic influences. Our analysis reveals few human traits fall between Mendelian and highly polygenic categories.
Area of Science:
- Quantitative genetics
- Statistical genetics
- Human genetics
Background:
- The concept of 'polygenicity' is frequently used but lacks a precise definition in genetic studies.
- Existing polygenicity measures vary, necessitating a unified and principled approach.
Purpose of the Study:
- To establish a principled definition for trait polygenicity.
- To introduce and evaluate mathematical properties for polygenicity measures.
- To estimate polygenicity for human traits and analyze their distribution.
Main Methods:
- Developed a principled definition for polygenicity encompassing various measures.
- Demonstrated mathematical properties satisfied by these measures.
- Utilized Fourier Mixture Regression with Genome-Wide Association Studies (GWAS) summary statistics to estimate polygenicity.
Main Results:
- Defined polygenicity and validated its mathematical properties.
- Estimated polygenicity for 36 human traits.
- Observed a scarcity of traits with intermediate polygenicity values between Mendelian and highly polygenic extremes.
Conclusions:
- The proposed definition provides a robust framework for understanding trait polygenicity.
- The distribution of estimated polygenicity in humans highlights a gap between distinct genetic architecture types.
- Further research into evolutionary and cellular mechanisms is warranted to explain observed polygenicity patterns.
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