ArticlePloS one2015
A General Model of Negative Frequency Dependent Selection Explains Global Patterns of Human ABO Polymorphism.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Multi-population genome-wide association meta-analysis of acute and chronic pancreatitis.medRxiv : the preprint server for health sciences · 2026Article
- More evidence for widespread antagonistic pleiotropy in polymorphic disease alleles.Frontiers in genetics · 2024Review
- Genetic Polymorphism in thePlants (Basel, Switzerland) · 2023Article
- Article
- ABO Genetic Variation in Neanderthals and Denisovans.Molecular biology and evolution · 2021Article
- ABO Blood Types and COVID-19: Spurious, Anecdotal, or Truly Important Relationships? A Reasoned Review of Available Data.Viruses · 2021Review
- Fondness for sugars of enteric viruses confronts them with human glycans genetic diversity.Human genetics · 2020Review
- Tracing the origin and evolution of supergene mimicry in butterflies.Nature communications · 2017Article
- Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response.Human genomics · 2015Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The ABO locus in humans is characterized by elevated heterozygosity and very similar allele frequencies among populations scattered across the globe. Using knowledge of ABO protein function, we generated a simple model of asymmetric negative frequency dependent selection and genetic drift to explain the maintenance of ABO polymorphism and its loss in human populations. In our models, regardless of the strength of selection, models with large effective population sizes result in ABO allele frequencies that closely match those observed in most continental populations. Populations must be moderately small to fall out of equilibrium and lose either the A or B allele (N(e) ≤ 50) and much smaller (N(e) ≤ 25) for the complete loss of diversity, which nearly always involved the fixation of the O allele. A pattern of low heterozygosity at the ABO locus where loss of polymorphism occurs in our model is consistent with small populations, such as Native American populations. This study provides a general evolutionary model to explain the observed global patterns of polymorphism at the ABO locus and the pattern of allele loss in small populations. Moreover, these results inform the range of population sizes associated with the recent human colonization of the Americas.
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