# Heritability of complex traits in sub-populations experiencing bottlenecks and growth

**Authors:** Cameron S. Taylor, Daniel J. Lawson

PMC · DOI: 10.1038/s10038-024-01249-2 · Journal of Human Genetics · 2024-04-08

## TL;DR

This paper shows how population history affects the heritability of complex traits and the power of GWAS to detect genetic variants.

## Contribution

The study introduces a simulation-based approach to quantify the impact of demographic processes on complex trait heritability.

## Key findings

- Demographic processes like drift and migration significantly alter the heritability of complex traits.
- Demographic history affects the power of GWAS to resolve heritability of complex traits.
- Modeling demographic history is essential for accurate inference of selection on complex traits.

## Abstract

Populations that have experienced a bottleneck are regularly used in Genome Wide Association Studies (GWAS) to investigate variants associated with complex traits. It is generally understood that these isolated sub-populations may experience high frequency of otherwise rare variants with large effect size, and therefore provide a unique opportunity to study said trait. However, the demographic history of the population under investigation affects all SNPs that determine the complex trait genome-wide, changing its heritability and genetic architecture. We use a simulation based approach to identify the impact of the demographic processes of drift, expansion, and migration on the heritability of complex trait. We show that demography has considerable impact on complex traits. We then investigate the power to resolve heritability of complex traits in GWAS studies subjected to demographic effects. We find that demography is an important component for interpreting inference of complex traits and has a nuanced impact on the power of GWAS. We conclude that demographic histories need to be explicitly modelled to properly quantify the history of selection on a complex trait.

## Full-text entities

- **Genes:** BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672] {aka BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4}
- **Diseases:** breast cancer (MESH:D001943)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11199143/full.md

## References

39 references — full list in the complete paper: https://tomesphere.com/paper/PMC11199143/full.md

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Source: https://tomesphere.com/paper/PMC11199143