Can “deleterious genes variants” be beneficial? Antagonistic pleiotropy on the example of the ApoE gene
1
Department of Environmental Health, Institute of Public Health, Faculty of Health Sciences, Jagiellonian University Medical College, Krakow, Poland
2
Doctoral School of Medical and Health Sciences, Jagiellonian University Medical College, Krakow, Poland
Submission date: 2024-12-18
Final revision date: 2025-08-27
Acceptance date: 2025-08-28
Publication date: 2026-04-08
Corresponding author
Paula Barbara Bartecka
Department of Environmental Health, Institute of Public Health, Faculty of Health Sciences, Jagiellonian University Medical College, Krakow, Poland
Department of Environmental Health, Institute of Public Health, Faculty of Health Sciences, Jagiellonian University Medical College, Krakow, Poland
Medical Studies 2026;42(1):26-31
KEYWORDS
TOPICS
ABSTRACT
Antagonistic pleiotropy is a phenomenon where one gene has both beneficial and detrimental effects. Apolipoprotein E is of particular interest due to its pleiotropic effects. It is encoded by the ApoE gene, which has three variants: ApoE2, ApoE3, and ApoE4. The ApoE4 allele is a classic example of antagonistic pleiotropy. On the one hand, its presence increases the risk of diseases related to cholesterol metabolism, such as ischemic heart disease and Alzheimer’s disease. On the other hand, ApoE4 can increase fertility, indicating potential reproductive benefits. This article provides an overview of the established detrimental effects of the ApoE4 allele and a comprehensive analysis of eight studies (1996–2023) on the effects of APOE polymorphism on fertility. Antagonistic pleiotropy plays a crucial role in the evolution of the human genome, explaining why some deleterious gene variants persist in populations. Understanding these mechanisms is key to explaining the complexity of human evolution and health.
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