Implications of the apportionment of human genetic diversity for the apportionment of human phenotypic diversity
Open accessAbstract
Researchers in many fields have considered the meaning of two results about genetic variation for concepts of "race." First, at most genetic loci, apportionments of human genetic diversity find that worldwide populations are genetically similar. Second, when multiple genetic loci are examined, it is possible to distinguish people with ancestry from different geographical regions. These two results raise an important question about human phenotypic diversity: To what extent do populations typically differ on phenotypes determined by multiple genetic loci? It might be expected that such phenotypes follow the pattern of similarity observed at individual loci. Alternatively, because they have a multilocus genetic architecture, they might follow the pattern of greater differentiation suggested by multilocus ancestry inference. To address the question, we extend a well-known classification model of Edwards (2003) by adding a selectively neutral quantitative trait. Using the extended model, we show, in line with previous work in quantitative genetics, that regardless of how many genetic loci influence the trait, one neutral trait is approximately as informative about ancestry as a single genetic locus. The results support the relevance of single-locus genetic-diversity partitioning for predictions about phenotypic diversity.
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Analogous measures of population differences in quantitative phenotypic traits and genetic loci-termed QST and FST, respectively-are approximately equal in neutral evolutionary models that include genetic drift but not natural selection.
“In other words, analogous measures of population differences in quantitative phenotypic traits and genetic loci—termed QST and FST, respectively—are approximately equal in neutral evolutionary models that include genetic drift but not natural selection.”
From Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences (2019) · cites this paper as [44]
Under a null model in which phenotypes are selectively neutral, genetic propensity differences contributing to phenotypic differences among populations are predicted to be small, with the expected difference among populations in the trait having comparable magnitude to the classical estimate of the 'apportionment of human genetic diversity'.
“Under a null model in which phenotypes are selectively neutral, genetic propensity differences contributing to phenotypic differences among populations are predicted to be small.”
From Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences (2019) · cites this paper as [44]
Under neutrality, the magnitude of phenotypic differences connects to the apportionment computation rather than the ancestry computation.
“analysis of models for the genetic basis of phenotypes finds that under neutrality, the magnitude of phenotypic differences connects to the apportionment computation rather than the ancestry computation [42, 44].”
From Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences (2019) · cites this paper as [44]
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Cites
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“When confronted by trait differences between groups that are much larger than genetic differences at typical loci, we have recourse to several possible explanations (Leinonen et al., 2013; Whitlock, 2008).”
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Cited by
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Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences
Rosenberg, N. A., Edge, M. D., Pritchard, J. K., & Feldman, M. W. (2019) · Evolution, Medicine, and Public Health · doi:10.1093/emph/eoy036 · Cited by 105 · see citing works
“In deriving such an expectation, an important insight from selectively neutral population-genetic models is that irrespective of the number of genetic loci contributing to a polygenic trait, the expected difference among populations in the trait is predicted to have comparable magnitude to the classical estimate of th…”
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Edge, & Rosenberg (2015) · Human Biology · doi:10.13110/humanbiology.87.4.0313 · Cited by 18 · see citing works
- Authors
- Edge, M. D., & Rosenberg, N. A.
- Affiliations
- Stanford University (US)
- Corresponding author
- Edge, Michael D.
- Venue
- Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences
- Publisher
- Elsevier BV
- Published
- 2015-08
- Volume
- 52
- Pages
- 32-45
- ISSN
- 1369-8486 (ISSN-L)
- PMC
- PMC4516610
- OpenAlex
- W1970865854
- Cited by
- 32
- References
- 1
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 2 · 2023: 2 · 2022: 3 · 2021: 2 · 2020: 4 · 2019: 3 · 2018: 1 · 2017: 3 · 2016: 2 · 2015: 3
- FWCI
- 2.06
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Studies in History and Philosophy of Science Part C Studies in History and Philosophy of Biological and Biomedical Sciences (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (R01 HG005855)
- Stanford Center for Computational, Evolutionary, and Human Genomics
- Stanford Graduate Fellowship
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- human genetic variation, race, ancestry inference, quantitative traits, genetic differentiation, genetic loci, classification models, quantitative genetics
- MeSH terms
- Humans, Models, Genetic, Phenotype, Genetic Variation, Quantitative Trait Loci, Racial Groups
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