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Genetic Bottleneck

Definition
AI-generated

A genetic bottleneck is a sharp reduction in effective population size that increases drift, lowers diversity, and can elevate frequencies of some variants by chance; founder populations and historical demographic events often leave such signatures.

Topics
Evolutionary genetics
Synonyms
Population bottleneck
Related
Admixture Ancestry Coalescent Theory

Why it matters in GWAS

Isolated or bottlenecked populations (e.g. Finland, Sardinia) can enrich for larger-effect, locally common variants and alter LD and imputation quality, affecting discovery, fine-mapping, and cross-population transfer of polygenic scores.

Example usage

"At this locus, Genetic Bottleneck annotations were used to prioritize plausible biological mechanisms."

Admixture Ancestry Coalescent Theory Founder Effect Gene Flow Natural Selection Population Expansion Linkage Disequilibrium (LD) Rare Variant Trans-Ancestry GWAS Wahlund Effect
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Charlesworth B. (2009). Effective population size and patterns of molecular evolution and variation. Nat Rev Genet.
  • Uffelmann E, et al. (2021). Genome-wide association studies. Nat Rev Methods Primers. https://doi.org/10.1038/s43586-021-00056-9
← Generalized Linear Mixed Model (GLMM) Genetic Correlation →

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