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

Autor: Taylor CS; School of Mathematics, University of Bristol, Bristol, UK., Lawson DJ; School of Mathematics, University of Bristol, Bristol, UK. dan.lawson@bristol.ac.uk.; MRC Integrative Epidemiology Unit, Bristol Medical School, University of Bristol, Bristol, UK. dan.lawson@bristol.ac.uk.
Jazyk: angličtina
Zdroj: Journal of human genetics [J Hum Genet] 2024 Jul; Vol. 69 (7), pp. 329-335. Date of Electronic Publication: 2024 Apr 08.
DOI: 10.1038/s10038-024-01249-2
Abstrakt: 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.
(© 2024. The Author(s).)
Databáze: MEDLINE
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