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Antagonistic Pleiotropy in Human Disease.

Sean G Byars¹, Konstantinos Voskarides²

¹Melbourne School of Population and Global Health, University of Melbourne, Parkville, VIC, Australia. sean.byars@unimelb.edu.au.

Journal of Molecular Evolution

|December 22, 2019

Summary

Evolutionary theories explain aging and disease risk. Antagonistic pleiotropy, where genes benefit youth but harm later life, shows strong evidence in humans for various non-communicable diseases.

Keywords:

Antagonistic pleiotropy Balancing selection Life history tradeoffs Natural selection Positive selection

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Area of Science:

Evolutionary biology
Genetics
Gerontology

Background:

Population genetics principles developed 1930s-1950s aimed to explain aging.
Theories like antagonistic pleiotropy and mutation accumulation are validated in animals.
Testing these theories in humans has been challenging but recent research is advancing.

Purpose of the Study:

To examine the evidence for antagonistic pleiotropy in humans.
To understand its role in genetic risk for non-communicable diseases.
To provide a primer on evolutionary selection mechanisms.

Main Methods:

Review of non-experimental evidence for antagonistic pleiotropy.
Analysis of data and tools used to test for antagonistic pleiotropy patterns.
Discussion of evolutionary theory on selection types.

Main Results:

Abundant non-experimental evidence supports antagonistic pleiotropy in human diseases.
Corroborating evidence found for cancer, neurodegenerative diseases, cardiovascular disease, and diabetes.
Disease risk variants show fitness benefits, such as disease resistance or survival advantages.

Conclusions:

Antagonistic pleiotropy is a strong evolutionary explanation for genetic disease risk.
Trade-offs between early-life fitness benefits and later-life disease burden are evident.
Further research is needed to understand its influence on contemporary diseases and treatments.