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The Genetics of Human Adaptation: Hard Sweeps, Soft Sweeps, and Polygenic Adaptation

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Pritchard, Jonathan K., Pickrell, Joseph K., Coop, Graham·2010·Current Biology

DOI 10.1016/j.cub.2009.11.055PMC PMC2994553

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Abstract

There has long been interest in understanding the genetic basis of human adaptation. To what extent are phenotypic differences among human populations driven by natural selection? With the recent arrival of large genome-wide data sets on human variation, there is now unprecedented opportunity for progress on this type of question. Several lines of evidence argue for an important role of positive selection in shaping human variation and differences among populations. These include studies of comparative morphology and physiology, as well as population genetic studies of candidate loci and genome-wide data. However, the data also suggest that it is unusual for strong selection to drive new mutations rapidly to fixation in particular populations (the 'hard sweep' model). We argue, instead, for alternatives to the hard sweep model: in particular, polygenic adaptation could allow rapid adaptation while not producing classical signatures of selective sweeps. We close by discussing some of the likely opportunities for progress in the field.

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Introduction to Quantitative Genetics.
Edwards, A. W. F., & Falconer, D. S. (1982) · Biometrics · doi:10.2307/2529912 · Cited by 21,447
A second generation human haplotype map of over 3.1 million SNPs
The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438
XV.—The Correlation between Relatives on the Supposition of Mendelian Inheritance.
Fisher, R. A. (1919) · Transactions of the Royal Society of Edinburgh · doi:10.1017/s0080456800012163 · Cited by 4,387
The hitch-hiking effect of a favourable gene
Smith, J. M., & Haigh, J. (1974) · Genetical Research · doi:10.1017/s0016672300014634 · Cited by 3,415 · cited 1×
“The standard approaches to detecting selection in population genetic data have been strongly shaped by the classical hitch-hiking model explored in detail by Maynard Smith and Haigh [40].”
A Map of Recent Positive Selection in the Human Genome
Voight, B. F., Kudaravalli, S., Wen, X., & Pritchard, J. K. (2006) · PLoS Biology · doi:10.1371/journal.pbio.0040072 · Cited by 2,925 · cited 1×
“These include signals of partial sweeps [20], reduced diversity at putatively neutral sites [28,29] and an excess of SNPs with extreme population differentiation (high FST) within genes (Figure 1A) [30].”
Self-citation
The hitch-hiking effect of a favourable gene
Smith, J. M., & Haigh, J. (2007) · Genetics Research · doi:10.1017/s0016672308009579 · Cited by 2,675
Genome-wide detection and characterization of positive selection in human populations
The International HapMap Consortium, Sabeti, P. C., Varilly, P., Fry, B., Lohmueller, J., Hostetter, E., Cotsapas, C., Xie, X., Byrne, E. H., McCarroll, S. A., et al. (2007) · Nature · doi:10.1038/nature06250 · Cited by 2,131
Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation
Li, J. Z., Absher, D. M., Tang, H., Southwick, A. M., Casto, A. M., Ramachandran, S., Cann, H. M., Barsh, G. S., Feldman, M. W., Cavalli-Sforza, L. L., et al. (2008) · Science · doi:10.1126/science.1153717 · Cited by 1,915
The effect of deleterious mutations on neutral molecular variation.
Charlesworth, B., Morgan, M. T., & Charlesworth, D. (1993) · Genetics · doi:10.1093/genetics/134.4.1289 · Cited by 1,814 · cited 2×
“Taken together, these observations are most easily explained by either widespread positive selection, or possibly by background selection against mildly deleterious alleles [29,32].”
Effective population size and patterns of molecular evolution and variation
Charlesworth, B. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2526 · Cited by 1,743

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Polygenic backgrounds influence phenotypic consequences of variants in cells, individuals, and populations
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“46,47 If environmental pressures relax again, the overall liability distribution shifts back, but the population now has a lower disease liability than at the outset due to the change in allele frequencies (Figure 3).”
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Fumagalli, M., & Balloux, F. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-420190-3.00011-9 · Cited by 3
A population‐genomic approach for estimating selection on polygenic traits in heterogeneous environments
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“However, many traits are polygenic (e.g., Pritchard et al., 2010; Yang et al., 2010; Shi et al., 2016; Lucas et al., 2018; Gompert et al., 2019), and thus, selection on genes can be weak even when selection on a trait is intense (Walsh & Lynch, 2018).”
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Positive Selection in Human Populations: Practical Aspects and Current Knowledge
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Complex adaptive architecture underlies adaptation to quantitative host resistance in a fungal plant pathogen
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On the Unfounded Enthusiasm for Soft Selective Sweeps III: The Supervised Machine Learning Algorithm That Isn’t
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“We also note that the exact balance between hard and soft sweeps depends on the yet undetermined distribution of mutational target sizes [40].”
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Detecting the differential genomic variants using cross-population phenotype-associated variant (XP-PAV) of the Landrace and Yorkshire pigs in Korea
Lee, Y. S., Son, S., Heo, J.-Y., & Shin, D. (2021) · Animal Cells and Systems · doi:10.1080/19768354.2021.2006310 · Cited by 3
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Hazzouri, K. M., Purugganan, M. D., & Flowers, J. M. (2013) · Advances in botanical research · doi:10.1016/b978-0-12-417163-3.00012-3 · Cited by 3
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Parallel evolution and cryptic diversification in a common and widespread Amazonian tree, Protium subserratum
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Background
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Background
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Background
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Background
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Background
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Background
Elusive vehicles of genetic representation
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Dangerous liaisons: human genetic adaptation to infectious agents
Quintana‐Murci, L. (2021) · Comptes Rendus Biologies · doi:10.5802/crbiol.30 · Cited by 1
“Selon le modèle du balayage classique, la sélection agit sur une mutation avantageuse nouvellement apparue qui va dès lors augmenter en fréquence, alors que la sélection sur variant existant implique la sélection positive d’un allèle qui est déjà présent dans la population et dont la fréquence va augmenter [10, 15].”
BackgroundInfluential
Disentangling Types of Linked Selection Using Patterns of Nucleotide Variation in Drosophila pseudoobscura
Korunes, K. L., Samuk, K., & Noor, M. A. F. (2021) · Population genomics · doi:10.1007/13836_2021_87 · Cited by 1
On Identifying Signatures of Positive Selection in Human Populations: A Dissertation
Crisci, J. L. (2013) · The Journal of the American Medical Association (JAMA) Network (American Medical Association) · doi:10.13028/m2q88f · Cited by 1
“Selection can also act on polygenic (Turelli and Barton 1990, Pritchard and Pickrell 2010) or epigenetic traits (Jablonka and Lamb 1998, Feinberg and Irizarry 2010).”
Background
Gene Evolution and Human Adaptation
Harris, E. E. (2013) · Wiley eBooks · doi:10.1002/9780470015902.a0020773.pub2 · Cited by 2
The Effect of Recurrent Mutation on the Linkage Disequilibrium under a Selective SweepPreprint
Borck, C. (2010) · arXiv (Cornell University) · doi:10.48550/arxiv.1009.3150 · Cited by 1
“alue and the LOD score) the pattern of a soft sweep can be recognized. Ongoing research argues for the importance of soft sweeps and polygenic adaptation, see for a review about this discussion e.g. (Pritchard et al., 2010). In order to detect soft sweeps it is important to understand the footprints they leave in DNA…”
Background
Exhibiting Human Evolution: How Identity and Ideology Get Factored into Displays at a Natural History Museum
Mitchell, C. (2023) · ScholarWorks@UMassAmherst (University of Massachusetts Amherst) · doi:10.7275/1429109 · Cited by 1
Eucalyptus genomics: Linkage mapping, QTL analysis and population genomic studies
Hudson, C. J. (2012) · eCite Digital Repository (University of Tasmania) · doi:10.25959/23207750 · Cited by 1
Population genomic scans reveal novel genes underlie convergent flowering time evolution in the introduced range of Arabidopsis thalianaPreprint
Gould, B. A., & Stinchcombe, J. R. (2015) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/023788 · Cited by 1
“The importance of polygenic adaptation in evolution in response to new environments is currently unknown, but some have argued may be the predominant form of quantitative trait evolution from standing genetic variation (Hancock et al. 2010; Pritchard and Di Rienzo 2010; Pritchard et al. 2010).”
Background
High-Throughput Sequencing of Transposable Element Insertions Suggests Adaptive Evolution of the Invasive Asian Tiger Mosquito Towards Temperate EnvironmentsPreprint
Goubert, C., Henri, H., Minard, G., Moro, C. V., Mavingui, P., Vieira, C. P., & Boulesteix, M. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/049197 · Cited by 1
Going down the rabbit hole: a review on methods characterizing selection and demography in natural populationsPreprint
Bourgeois, Y., Hazzouri, K. M., & Warren, B. H. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/052761 · Cited by 1
“Association methods may help targeting variants undergoing soft sweeps, weak selection or those involved in polygenic control of traits (Pritchard et al., 2010).”
Method
Evidence for Recent Polygenic Selection on Educational Attainment and Underlying Cognitive Abilities Inferred from GWAS Hits: A Monte Carlo Simulation Using Random SNPsPreprint
Piffer, D. (2017) · Preprints.org · doi:10.20944/preprints201701.0127.v3 · Cited by 1
“Signals of polygenic selection can be identified by various methods, such as correlation of allele frequencies [1-4] and the regression of population average of trait values on polygenic scores (PS) [2,5-7], which have been successfully applied to human stature [5-7] and cognitive abilities [2].”
Method
The Evolutionary Implication of Gene Expression Variation in Eukaryotes: From Yeast to Human
Li, J. (2012) · Library and Archives Canada (Government of Canada) · Cited by 1
Evolutionary ecology of fire-adaptive traits in a Mediterranean pine species
Martín‐Sanz, R. C. (2018) · doi:10.35376/10324/33128 · Cited by 1
Impact of modular mitochondrial epistatic interactions on the evolution of human subpopulationsPreprint
Shinde, P. S., Whitwell, H. J., Verma, R. K., Ivanchenko, M., Zaikin, A. A., & Jalan, S. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/505818 · Cited by 1
Rapid polygenic selection generates fine spatial structure among ecological niches in a well-mixed populationPreprint
Ehrlich, M. A., Wagner, D. N., Oleksiak, M. F., & Crawford, D. L. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.03.26.009787 · Cited by 2
A genomic investigation of bonobo (Pan paniscus) and chimpanzee (Pan troglodytes) divergence
Brand, C. M. (2021) · Scholars' Bank (University of Oregon) · Cited by 1
The evolution of novel biotic interactions at ecological margins in response to climate change involves alleles from across the geographical range of the UK Brown Argus butterflyPreprint
de Jong, M. A., van Rensburg, A. J., Whiteford, S., Yung, C. J., Beaumont, M., Jiggins, C. D., & Bridle, J. R. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.02.07.479435 · Cited by 1
“Alternatively, genomic variation already present and affecting host plant use in the established populations may mean that only small changes in allele frequency across many loci are needed to specialize on Geranium plants during expansion (see e.g. Pritchard et al. 2010).”
Background
Identifying Regions of the Human Genome that Exhibit Evidence of Positive Selection
Kimura, R., & Ohashi, J. (2013) · Wiley eBooks · doi:10.1002/9780470015902.a0020850.pub2 · Cited by 1
Direct and indirect impacts of positive selection on genomic variation in Drosophila serrataPreprint
Wang, Y., Reddiex, A. J., Allen, S. L., & Chenoweth, S. F. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.03.31.486660 · Cited by 1
“…while our study considers fixation events at individual loci, GWAS underscore the reality that variation in most phenotypic traits is controlled by many genes, which raises the possibility that selection is often polygenic (Barghi et al., 2020; Pritchard & Di Rienzo, 2010; Pritchard et al., 2010).”
Background
Mapping the genetic evolutionary timeline of human neural and cognitive traitsPreprint
Libedinsky, I., Wei, Y., de Leeuw, C., Rilling, J. K., Danielle Posthuma, B., & van den Heuvel, M. P. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.02.05.525539 · Cited by 1
“The results of this sensitivity analysis suggest that selection pressure may have influenced the variants linked to significant phenotypes 22 .”
Gene expression plasticity followed by genetic change during colonization a high-elevation environmentPreprint
She, H., Hao, Y., Song, G., Luo, X., Lei, F., Zhai, W., & Qu, Y. (2023) · eLife · doi:10.7554/elife.86687.1 · Cited by 1
The evolutionary landscape of host immunity genes involved in respiratory and other immune-related diseases, and their association with severe COVID-19 outcomesPreprint
Cross, C. N., Lisi, A., Simmonds, F. C., Washington, K. N., Heinbockel, T., & Campbell, M. C. (2025) · medRxiv · doi:10.1101/2025.08.28.25334640 · Cited by 1
“Under this model, no single favored mutation sweeps to fixation [93, 94]; instead beneficial alleles at different nucleotide sites increase in frequency simultaneously undergoing incomplete selective sweeps.”
Adaptive introgression between two Drosophila species enhances heat tolerance despite barriers to gene flowPreprint
Poikela, N., Snook, R. R., Kulmuni, J., & Ritchie, M. G. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.01.13.699320 · Cited by 1
Influence des variations spatio-temporelles de l’environnement sur la distribution actuelle de la diversité génétique des populations
Tournebize, R. (2017) · theses.fr (ABES) · doi:10.70675/81813a3dz2c65z4dd3za3c5zbba963081c73 · Cited by 1
Convergent genome- and gene-level constraints shape repeated environmental adaptation in grassesPreprint
Hsu, S., Schulz, A. J., Hale, C. O., Costa‐Neto, G., Miller, Z. R., Stitzer, M. C., Wrightsman, T., Zhai, J., Lai, W., Dawson, H. D., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.01.729361 · Cited by 1
“The mutational target size for selection responses fundamentally determines the repeatability of the evolutionary trajectories in independent lineages ( 77 , 78 ).”
Diet, Changes in Gene Expression and Human Evolution
Luca, F. (2012) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0023644
Evolution of the Human Genome: Adaptive Changes
Crisci, J. L., & Jensen, J. D. (2012) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0023987
Mechanistic bases of metal tolerance: linking phenotype to genotype
Anderson, C. J. (2012) · ORCA Online Research @Cardiff (Cardiff University)
Investigating genome wide patterns of natural selection in eukaryotes
Gossmann, T. I. (2012) · Sussex Research Online (University of Sussex)
Complex diseases: a genome-wide assessment of the role of selective pressure on the human genome
Amato, R. (2011)
Recent evolution of the mutation rate and spectrum in EuropeansPreprint
Harris, K. (2014) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/010314
“However, other putative genetic signals of local adaptation are poorly understood with respect to their phenotypic effects [5, 6, 7].”
Background
MUTATIONISM 2.0: VIEWING EVOLUTION THROUGH MUTATION'S LENS
Wright, S. (2014) · Evolution · doi:10.1111/evo.12369
The development of grading criteria and investigation of single rater test-retest reliability of selected floor sitting postures
Hargovan, B. (2012) · Unitec Research Bank (Unitec Institute of Technology)
METHOD Open Access
Maretty, L., Sibbesen, J. A., & Krogh, A. (2014)
Some Inconvenient Implications
Maier, D. S. (2012) · The international library of environmental, agricultural and food ethics/The International library of environmental, agricultural and food ethics · doi:10.1007/978-94-007-3991-8_7
Robust Identification of Local Adaptation from
Günther, T., & Coop, G. (2013)
Self-citation
A New Local Score Based Method Applied to Behavior-divergent Quail Lines Sequenced in Pools Precisely Detects Selection Signatures on Genes Related to AutismPreprint
Fariello, M. I., Boitard, S., Mercier, S., Robelin, D., Faraut, T., Arnould, C., Recoquillay, J., Bouchez, O., Salin, G., Déhais, P., et al. (2015) · arXiv (Cornell University) · doi:10.48550/arxiv.1507.06433
“Markers in the neighborhood of the selection target might thus also show departures from the expected patterns under the neutral evolution null hypothesis (Pritchard et al., 2010).”
Background

Authors: Pritchard, J. K., Pickrell, J. K., & Coop, G.
Affiliations: Howard Hughes Medical Institute (US)
University of Chicago (US)
University of California, Davis (US)
Corresponding author: Pritchard, Jonathan K.
ORCID: Pritchard, Jonathan K.
Coop, Graham
Venue: Current Biology
Publisher: Elsevier BV
Published: 2010-02
Volume: 20
Issue: 4
Pages: R208-R215
ISSN: 0960-9822 (ISSN-L)
DOI: 10.1016/j.cub.2009.11.055
PMC: PMC2994553
OpenAlex: W2135370544
Cited by: 932
References: 80
Citations by year: 2026: 46 · 2025: 35 · 2024: 38 · 2023: 46 · 2022: 47 · 2021: 69 · 2020: 64 · 2019: 63 · 2018: 72 · 2017: 54 · 2016: 73 · 2015: 69 · 2014: 72 · 2013: 51 · 2012: 64
FWCI: 32.95
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 1262 d)
Locations: Current Biology (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: Howard Hughes Medical Institute
National Institutes of Health
National Institute of Mental Health (R01MH084703)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: human adaptation, positive selection, hard sweeps, soft sweeps, polygenic adaptation, selective sweeps, human population variation, natural selection, candidate loci
MeSH terms: Adaptation, Biological, Genetics, Population, Humans, Selection, Genetic, Multifactorial Inheritance

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The Genetics of Human Adaptation: Hard Sweeps, Soft Sweeps, and Polygenic Adaptation

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