Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
Open accessAbstract
Exponential Growth Effects: Humans are an extraordinarily successful species, as measured by our large population size—approximately 7 billion—much of which can be put down to recent explosive growth. Leveraging human genomic data, Keinan and Clark (p. 740 ) examined the effects of population growth on our ability to detect rare genetic variants, those hypothesized to be most likely associated with disease. It appears that rapid recent growth increases the load of rare variants and is likely to play an important role in the individual genetic burden of complex disease risk.
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These genes were targeted by positive selection and did not merely experience a relaxation of constraint or accumulate rare variants as a result of human population size growth.
“Positively selected sites were detected in genes showing higher median γ values, suggesting that these genes were targeted by positive selection, and did not merely experience a relaxation of constraint or accumulated rare variants as a result of human population size growth47 (Fig. 4).”
From Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders (2017) · cites this paper as [47]
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- Authors
- Keinan, A., & Clark, A. G.
- Affiliations
- Cornell University (US)
- Corresponding author
- Keinan, Alon
- Venue
- Science
- Published
- 2012-05-11
- Volume
- 336
- Issue
- 6082
- Pages
- 740-743
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC3586590
- OpenAlex
- W2094608047
- Cited by
- 548
- References
- 39
- Citations by year
- 2026: 8 · 2025: 24 · 2024: 16 · 2023: 20 · 2022: 27 · 2021: 24 · 2020: 30 · 2019: 40 · 2018: 48 · 2017: 31 · 2016: 50 · 2015: 64 · 2014: 61 · 2013: 74 · 2012: 31
- FWCI
- 44.33
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5p50gm065509-10)
- National Heart, Lung, and Blood Institute (HL102419, RC2HL102419)
- National Human Genome Research Institute (R01HG003229, U01HG005715)
- National Institute of General Medical Sciences (P50-GM065509, GM-065509)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- rare variants, site frequency spectrum, genetic load, population genetics, sample size effects, genetic burden, demographic history
- MeSH terms
- Gene Frequency, Genetics, Population, Haplotypes, Heterozygote, Humans, Models, Genetic, Mutation, Population Density, Population Growth, Genetic Variation, Genome, Human, Sequence Analysis, DNA, Sample Size, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, White People, Asian People, Genetic Association Studies
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