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Polygenic Traits01:18

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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Related Experiment Video

Updated: Jan 18, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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When should adaptation arise from a polygenic response versus few large effect changes?

William R Milligan1, Laura K Hayward2, Guy Sella1,3

  • 1Department of Biological Sciences, Columbia University, New York, NY, USA.

Biorxiv : the Preprint Server for Biology
|June 4, 2025
PubMed
Summary
This summary is machine-generated.

Genetic adaptation can occur through large effect mutations or polygenic responses. This study models adaptation to changing environments, revealing how trait genetics and ecology influence whether large or small genetic changes drive evolutionary adaptation.

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Area of Science:

  • Evolutionary biology
  • Quantitative genetics

Background:

  • The genetic basis of adaptation, whether through large effect mutations or polygenic changes, remains a central question in evolutionary biology.
  • While large effect adaptations are documented, evidence for widespread polygenic adaptation is limited, hindering a comprehensive understanding.
  • Synthesizing existing evidence is challenging due to diverse study designs and inherent biases.

Purpose of the Study:

  • To reframe the question of adaptation's genetic basis by considering trait genetics and trait ecology.
  • To develop a theoretical framework predicting when large effect versus polygenic adaptation is favored.
  • To provide a unified approach for interpreting diverse evidence on the genetic underpinnings of adaptation.

Main Methods:

  • Modeling the adaptive response of a quantitative trait under stabilizing selection.
  • Simulating adaptation following a sudden shift in the optimal trait value in a population at mutation-selection-drift balance.
  • Analyzing how trait genetics and trait ecology influence the contribution of large effect and polygenic changes.

Main Results:

  • The relative contributions of large effect and polygenic changes to adaptation are shown to depend on specific genetic and ecological factors.
  • The model provides a theoretical basis for predicting the predominant mode of adaptation under varying conditions.
  • Key factors influencing the genetic basis of adaptation were identified, including genetic variation and selection pressure.

Conclusions:

  • A theoretical framework is established to predict when large effect or polygenic adaptation is more likely.
  • The study offers testable predictions regarding the genetic architecture of adaptation across different traits and environments.
  • This work provides a foundation for integrating disparate lines of evidence on the genetic basis of evolutionary adaptation.