Genetic evidence for natural selection in humans in the contemporary United States
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Abstract
Significance: I leverage recent advances in molecular genetics to test directly whether genetic variants associated with a number of phenotypes have been under natural selection in the contemporary United States. My finding that natural selection has been slowly occurring for genetic variants associated with educational attainment and (suggestively, in females) for variants associated with age at menarche provides additional evidence that humans are still evolving—albeit slowly and at a rate that cannot account for more than a small fraction of the large changes that have occurred over the past few generations.
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Polygenic scores that predict education are correlated with IQ and have been shown to correlate negatively with fertility in Icelandic and US data.
“Polygenic scores that predict education are correlated with IQ and have been shown to correlate negatively with fertility in Icelandic and US data (16, 17).”
From Flynn effect and its reversal are both environmentally caused (2018) · cites this paper as [17]
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Cites
Biological insights from 108 schizophrenia-associated genetic loci
Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014) · Nature · doi:10.1038/nature13595 · Cited by 7,577 · see citing works
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bulik-Sullivan, B. K., Loh, P.-R., Finucane, H. K., Ripke, S., Yang, J., Patterson, N., Daly, M. J., Price, A. L., & Neale, B. M. (2015) · Nature Genetics · doi:10.1038/ng.3211 · Cited by 5,559 · see citing works
The measurement of selection on correlated characters
Lande, R., & Arnold, S. J. (1983) · Evolution · doi:10.1111/j.1558-5646.1983.tb00236.x · Cited by 5,437 · see citing works
Biological, clinical and population relevance of 95 loci for blood lipids
Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., Pirruccello, J. P., Ripatti, S., Chasman, D. I., Willer, C. J., et al. (2010) · Nature · doi:10.1038/nature09270 · Cited by 3,487 · see citing works
Meta-analysis of the heritability of human traits based on fifty years of twin studies
Polderman, T. J. C., Benyamin, B., de Leeuw, C. A., Sullivan, P. F., van Bochoven, A., Visscher, P. M., & Posthuma, D. (2015) · Nature Genetics · doi:10.1038/ng.3285 · Cited by 2,467 · cited 2× · see citing works
“174 (for HGT) and are all significantly larger than zero; nonetheless, they are all much smaller than estimates of the phenotypes’ heritability in the existing literature (31), implying that the scores are very imperfect proxies for the individuals’ true genetic scores (defined as the sum of the true average causal ef…”
BackgroundConvergent adaptation of human lactase persistence in Africa and Europe
Tishkoff, S. A., Reed, F. A., Ranciaro, A., Voight, B. F., Babbitt, C. C., Silverman, J. S., Powell, K., Mortensen, H. M., Hirbo, J. B., Osman, M., et al. (2007) · Nature Genetics · doi:10.1038/ng1946 · Cited by 1,615 · see citing works
Sequencing of 50 Human Exomes Reveals Adaptation to High Altitude
Yi, X., Liang, Y., Huerta-Sanchez, E., Jin, X., Cuo, Z. X. P., Pool, J. E., Xu, X., Jiang, H., Vinckenbosch, N., Korneliussen, T. S., et al. (2010) · Science · doi:10.1126/science.1190371 · Cited by 1,611 · cited 1× · see citing works
“However, new evidence that has been accumulating over the last decade suggests that natural selection has been operating in humans over the past few thousand years (2–4) and that a number of adaptations—such as lactase persistence (5), resistance to malaria (6), and adaptation to high altitude (7)—have occurred relati…”
BackgroundGenome-wide patterns of selection in 230 ancient Eurasians
Mathieson, I., Lazaridis, I., Rohland, N., Mallick, S., Patterson, N., Roodenberg, S. A., Harney, E., Stewardson, K., Fernandes, D., Novak, M., et al. (2015) · Nature · doi:10.1038/nature16152 · Cited by 1,515 · see citing works
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
Study, A. O. C., Perry, J. R. B., The GENICA Network, kConFab, Study, T. L. C., The InterAct Consortium, Early Growth Genetics (EGG) Consortium, Day, F., Elks, C. E., Sulem, P., et al. (2014) · Nature · doi:10.1038/nature13545 · Cited by 604 · see citing works
Evidence for a secular trend in age of menarche
Wyshak, G., & Frisch, R. E. (1982) · New England Journal of Medicine · doi:10.1056/nejm198204293061707 · Cited by 448 · see citing works
Natural selection and quantitative genetics of life-history traits in Western women: a twin study
Kirk, K. M., Blomberg, S. P., Duffy, D. L., Heath, A. C., Owens, I. P. F., & Martin, N. G. (2001) · Evolution · doi:10.1111/j.0014-3820.2001.tb01304.x · Cited by 245 · see citing works
Replicability and Robustness of Genome-Wide-Association Studies for Behavioral Traits
Rietveld, C. A., Conley, D., Eriksson, N., Esko, T., Medland, S. E., Vinkhuyzen, A. A. E., Yang, J., Boardman, J. D., Chabris, C. F., Dawes, C. T., et al. (2014) · Psychological Science · doi:10.1177/0956797614545132 · Cited by 111 · see citing works
Flagged first, then by citations
Research works printed but not linked: 41
- Voight BF, Kudaravalli S, Wen X, Pritchard JK (2006) A map of recent positive selection in the human genome. PLoS Biol 4(3):e72.
- Pickrell JK, et al. (2009) Signals of recent positive selection in a worldwide sample of human populations. Genome Res 19(5):826-837.
- Kwiatkowski DP (2005) How malaria has affected the human genome and what human genetics can teach us about malaria. Am J Hum Genet 77(2):171-192.
- Turchin MC, et al. (2012) Evidence of widespread selection on standing variation in Europe at height-associated SNPs. Nat Genet 44(9):1015-1019.
- Stearns SC, Byars SG, Govindaraju DR, Ewbank D (2010) Measuring selection in contemporary human populations. Nat Rev Genet 11(9):611-622.
- Zietsch BP, Kuja-Halkola R, Walum H, Verweij KJH (2014) Perfect genetic correlation between number of offspring and grandoffspring in an industrialized human population. Proc Natl Acad Sci USA 111(3):1032-1036.
- Milot E, et al. (2011) Evidence for evolution in response to natural selection in a contemporary human population. Proc Natl Acad Sci USA 108(41):17040-17045.
- Elguero E, et al. (2015) Malaria continues to select for sickle cell trait in Central Africa. Proc Natl Acad Sci USA 112(22):7051-7054.
- Stulp G, Barrett L, Tropf FC, Mills M (2015) Does natural selection favour taller stature among the tallest people on earth? Proc Biol Sci 282(1806):20150211.
- Courtiol A, Pettay JE, Jokela M, Rotkirch A, Lummaa V (2012) Natural and sexual selection in a monogamous historical human population. Proc Natl Acad Sci USA 109(21):8044-8049.
- Morrissey MB, Kruuk LEB, Wilson AJ (2010) The danger of applying the breeder's equation in observational studies of natural populations. J Evol Biol 23(11):2277-2288.
- Kamin LJ, Goldberger AS (2002) Twin studies in behavioral research: a skeptical view. Theor Popul Biol 61(1):83-95.
- Locke AE, et al. (2015) Genetic studies of body mass index yield new insights for obesity biology. Nature 518(7538):197-206.
- Scott RA, et al. (2012) Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet 44(9):991-1005.
- Wood AR, et al. (2014) Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet 46(11):1173-1186.
- Sonnega A, et al. (2014) Cohort profile: The Health and Retirement Study (HRS). Int J Epidemiol 43(2):576-585.
- Price AL, et al. (2006) Principal components analysis corrects for stratification in genome- wide association studies. Nat Genet 38(8):904-909.
- Tropf FC, et al. (2015) Human fertility, molecular genetics, and natural selection in modern societies. PLoS One 10(6):e0126821.
- Wray NR, et al. (2013) Pitfalls of predicting complex traits from SNPs. Nat Rev Genet 14(7):507-515.
- Vilhjálmsson BJ, et al. (2015) Modeling linkage disequilibrium increases accuracy of polygenic risk scores. Am J Hum Genet 97(4):576-592.
- Robertson A (1966) A mathematical model of the culling process in dairy cattle. Anim Prod 8(1):95-108.
- Branigan AR, McCallum KJ, Freese J (2013) Variation in the heritability of educational attainment: An international meta-analysis. Soc Forces 92(1):109-140.
- Weeden J, Abrams MJ, Green MC, Sabini J (2006) Do high-status people really have fewer children? Hum Nat 17(4):377-392.
- Fieder M, Huber S (2007) The effects of sex and childlessness on the association between status and reproductive output in modern society. Evol Hum Behav 28(6):392-398.
- Huber S, Bookstein FL, Fieder M (2010) Socioeconomic status, education, and reproduction in modern women: an evolutionary perspective. Am J Hum Biol 22(5):578- 587.
- Skirbekk V (2008) Fertility trends by social status. Demogr Res 18(5):145-180.
- Hopcroft RL (2006) Sex, status, and reproductive success in the contemporary United States. Evol Hum Behav 27(2):104-120.
- Stulp G, Barrett L (2014) Evolutionary perspectives on human height variation. Biol Rev 91(1):206-234.
- Goldin CD, Katz LF (2009) The race between education and technology (Harvard University Press, Cambridge, MA).
- Cole TJ (2003) The secular trend in human physical growth: a biological view. Econ Hum Biol 1(2):161-168.
- Lawson DW, Mace R (2011) Parental investment and the optimization of human family size. Philos Trans R Soc Lond B Biol Sci 366(1563):333-343.
- Jones JH, Bird RB (2014) The marginal valuation of fertility. Evol Hum Behav 35(1):65- 71.
- Brommer JE, Gustafsson L, Pietiäinen H, Merilä J (2004) Single-generation estimates of individual fitness as proxies for long---term genetic contribution. Am Nat 163(4):505-517.
- Courtiol A, et al. (2013) The demographic transition influences variance in fitness and selection on height and BMI in rural Gambia. Curr Biol 23(10):884-889.
- Moorad JA (2013) A Demographic transition altered the strength of selection for fitness and age-specific survival and fertility in a 19th century American population. Evolution 67(6):1622-1634.
- Bulik-Sullivan B, et al. (2015) An atlas of genetic correlations across human diseases and traits. Nat Genet 47(11):1236-1241.
- Lee SH, Yang J, Goddard ME, Visscher PM, Wray NR (2012) Estimation of pleiotropy between complex diseases using single-nucleotide polymorphism-derived genomic relationships and restricted maximum likelihood. Bioinformatics 28(19):2540-2542.
- Visscher PM, et al. (2014) Statistical Power to Detect Genetic (Co)Variance of Complex Traits Using SNP Data in Unrelated Samples. PLoS Genet 10(4):e1004269.
- Van Os J, Jones PB (2001) Neuroticism as a risk factor for schizophrenia. Psychol Med 31(6):1129-34.
- Kendler KS, Ohlsson H, Sundquist J, Sundquist K (2015) IQ and schizophrenia in a Swedish national sample: their causal relationship and the interaction of IQ with genetic risk. Am J Psychiatry 172(3):259-265.
- Okasha M, McCarron P, McEwen J, Smith GD (2001) Age at menarche: secular trends and association with adult anthropometric measures. Ann Hum Biol 28(1):68-78.
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- Authors
- Beauchamp, J. P.
- Affiliations
- Harvard University (US)
- Corresponding author
- Beauchamp, Jonathan P.
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2016-07-11
- Volume
- 113
- Issue
- 28
- Pages
- 7774-7779
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC4948342
- OpenAlex
- W2470195001
- Cited by
- 138
- References
- 12
- Citations by year
- 2026: 5 · 2025: 3 · 2024: 19 · 2023: 23 · 2022: 17 · 2021: 10 · 2020: 13 · 2019: 10 · 2018: 13 · 2017: 14 · 2016: 11
- FWCI
- 10.73
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Keywords
- natural selection, human evolution, polygenic risk score, educational attainment, age at menarche, body mass index, schizophrenia, glucose concentration, height, total cholesterol, fitness, selection ratio, European ancestry, Health and Retirement Study
- MeSH terms
- Aged, Blood Glucose, Body Height, Cholesterol, Educational Status, Female, Humans, Longitudinal Studies, Male, Menarche, Middle Aged, Models, Genetic, Phenotype, Schizophrenia, Selection, Genetic, Body Mass Index
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