ArticlePLoS genetics2014
The impact of population demography and selection on the genetic architecture of complex traits.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 1 of them a synthesis that pooled it.
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Who cites it
81 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A Meta-Assembly of Selection Signatures in Cattle.PloS one · 2016Pooled it
- Inference of population demographic history captures differing evolutionary signals based on the number of individuals in the dataset.bioRxiv : the preprint server for biology · 2026Article
- The Influence of Demographic History and Genetic Architecture on Complex Traits via Runs of Homozygosity.bioRxiv : the preprint server for biology · 2025Article
- Determining the driving factors shaping genetic architecture of complex traits in recently admixed populations.bioRxiv : the preprint server for biology · 2025Article
- Evidence of long-term purging of mutation burden in killer whale Orcinus orca genomes.Heredity · 2025Article
- Assessing simulation-based supervised machine learning for demographic parameter inference from genomic data.Heredity · 2025Article
- Linking individual fitness to the evolution of cognition.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- A genetic perspective on the recent demographic history of Ireland and Britain.European journal of human genetics : EJHG · 2025Article
- Local Adaptation Is Highest in Populations With Stable Long-Term Growth.Ecology letters · 2025Article
- Recently Delisted Songbird Harbors Extensive Genomic Evidence of Inbreeding, Potentially Complicating Future Recovery.Evolutionary applications · 2024Article
- Detecting adaptive changes in gene copy number distribution accompanying the human out-of-Africa expansion.Human genome variation · 2024Article
- Mitochondrial DNA Genomes Reveal Relaxed Purifying Selection During Human Population Expansion after the Last Glacial Maximum.Molecular biology and evolution · 2024Article
- Heritability of complex traits in sub-populations experiencing bottlenecks and growth.Journal of human genetics · 2024Article
- Review
- Allele surfing causes maladaptation in a Pacific salmon of conservation concern.PLoS genetics · 2023Article
- Deleterious Variation in Natural Populations and Implications for Conservation Genetics.Annual review of animal biosciences · 2023Review
- The Impact of Genetic Surfing on Neutral Genomic Diversity.Molecular biology and evolution · 2022Article
- Genome-wide selection signatures reveal widespread synergistic effects of two different stressors inProceedings. Biological sciences · 2022Article
- Article
- Evidence for continent-wide convergent evolution and stasis throughout 150 y of a biological invasion.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
21 more citing papers are in PubMed but not listed here.
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1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Population genetic studies have found evidence for dramatic population growth in recent human history. It is unclear how this recent population growth, combined with the effects of negative natural selection, has affected patterns of deleterious variation, as well as the number, frequency, and effect sizes of mutations that contribute risk to complex traits. Because researchers are performing exome sequencing studies aimed at uncovering the role of low-frequency variants in the risk of complex traits, this topic is of critical importance. Here I use simulations under population genetic models where a proportion of the heritability of the trait is accounted for by mutations in a subset of the exome. I show that recent population growth increases the proportion of nonsynonymous variants segregating in the population, but does not affect the genetic load relative to a population that did not expand. Under a model where a mutation's effect on a trait is correlated with its effect on fitness, rare variants explain a greater portion of the additive genetic variance of the trait in a population that has recently expanded than in a population that did not recently expand. Further, when using a single-marker test, for a given false-positive rate and sample size, recent population growth decreases the expected number of significant associations with the trait relative to the number detected in a population that did not expand. However, in a model where there is no correlation between a mutation's effect on fitness and the effect on the trait, common variants account for much of the additive genetic variance, regardless of demography. Moreover, here demography does not affect the number of significant associations detected. These findings suggest recent population history may be an important factor influencing the power of association tests and in accounting for the missing heritability of certain complex traits.
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