A General Model of the Relationship between the Apportionment of Human Genetic Diversity and the Apportionment of Human Phenotypic Diversity
Open accessAbstract
Models that examine genetic differences between populations alongside a genotype-phenotype map can provide insight about phenotypic variation among groups. We generalize a simple model of a completely heritable, additive, selectively neutral quantitative trait to examine the relationship between single-locus genetic differentiation and phenotypic differentiation on quantitative traits. In agreement with similar efforts using different models, we show that the expected degree to which two groups differ on a neutral quantitative trait is not strongly affected by the number of genetic loci that influence the trait: neutral trait differences are expected to have a magnitude comparable to the genetic differences at a single neutral locus. We discuss this result with respect to population differences in disease phenotypes, arguing that although neutral genetic differences between populations can contribute to specific differences between populations in health outcomes, systematic patterns of difference that run in the same direction for many genetically independent health conditions are unlikely to be explained by neutral genetic differentiation.
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One key component of the inference of polygenic adaptation is the use of an appropriate null expectation for polygenic score distributions and phenotypic differences.
“One key component of the inference of polygenic adaptation is the use of an appropriate null expectation for polygenic score distributions and phenotypic differences [12, 42].”
From Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences (2019) · cites this paper as [42]
The Introduction (page not provided) gives an expected magnitude for between-group differences in a neutral polygenic trait. The Discussion’s “Interpreting Group Differences in Phenotype” section (page not provided) uses that neutral expectation to assess possible selection. Our copy does not address null distributions for polygenic scores, so it supports the phenotypic-differences part but not that part of the claim. (LLM, conf=0.82)
Experimental — accuracy not yet measuredQST is equal to r/(2−r) for diploids.
“For diploids, in terms of the variance proportion r discussed in the previous section, it is equal to QST=r/(2−r) (26).”
From Heritability within groups is uninformative about differences among groups: Cases from behavioral, evolutionary, and statistical genetics (2024) · cites this paper as [26]
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 [42]
In the null model, systematic health disparities are unlikely: the binomial probability that the trait value is larger in one of a pair of populations for at least 28 of 36 independent phenotypes is 0.0012.
“In this model, systematic health disparities are unlikely: assuming that no genetic correlation exists between phenotypic outcomes, the binomial probability that the trait value is larger in one of a pair of populations for at least 28 of 36 independent phenotypes is 0.0012 [42].”
From Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences (2019) · cites this paper as [42]
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Cites
Statistical power analysis for the behavioral sciences
Cohen, J. (1990) · Computers Environment and Urban Systems · doi:10.1016/0198-9715(90)90050-4 · Cited by 65,406 · see citing works
ESTIMATING F -STATISTICS FOR THE ANALYSIS OF POPULATION STRUCTURE
Weir, B. S., & Cockerham, C. C. (1984) · Evolution · doi:10.1111/j.1558-5646.1984.tb05657.x · Cited by 18,909 · see citing works
Siegel, R., Naishadham, D., & Jemal, A. (2013) · CA A Cancer Journal for Clinicians · doi:10.3322/caac.21166 · Cited by 11,825 · see citing works
Analysis of Gene Diversity in Subdivided Populations
Nei, M. (1973) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.70.12.3321 · Cited by 8,885 · see citing works
Falush, D., Stephens, M., & Pritchard, J. K. (2003) · Genetics · doi:10.1093/genetics/164.4.1567 · Cited by 7,920 · see citing works
Heart Disease and Stroke Statistics—2010 Update: A Report From the American Heart Association
WRITING GROUP MEMBERS, Lloyd-Jones, D., Adams, R. J., Brown, T. M., Carnethon, M., Dai, S., De Simone, G., Ferguson, T. B., Ford, E., Furie, K., et al. (2010) · Circulation · doi:10.1161/circulationaha.109.192667 · Cited by 5,700 · see citing works
The Handbook of Research Synthesis.
Howel, D., Cooper, H., & Hedges, L. V. (1995) · Biometrics · doi:10.2307/2533295 · Cited by 3,657 · see citing works
Discrimination and racial disparities in health: evidence and needed research
Williams, D. R., & Mohammed, S. A. (2009) · Journal of Behavioral Medicine · doi:10.1007/s10865-008-9185-0 · Cited by 3,371 · see citing works
Racial Residential Segregation: A Fundamental Cause of Racial Disparities in Health
Williams, D. R., & Collins, C. (2001) · Public Health Reports · doi:10.1093/phr/116.5.404 · Cited by 3,065 · see citing works
Genetic Structure of Human Populations
Rosenberg, N. A., Pritchard, J. K., Weber, J. L., Cann, H. M., Kídd, K. K., Анатольевич, Ж. Л., & Feldman, M. W. (2002) · Science · doi:10.1126/science.1078311 · Cited by 3,000 · see citing works
The Apportionment of Human Diversity
Lewontin, R. C. (1972) · Evolutionary Biology · doi:10.1007/978-1-4684-9063-3_14 · Cited by 2,472 · see citing works
Weir, B. S. (1997) · Biometrics · doi:10.2307/2533134 · Cited by 2,263 · see citing works
Socioeconomic Disparities In Health: Pathways And Policies
Adler, N. E., & Newman, K. (2002) · Health Affairs · doi:10.1377/hlthaff.21.2.60 · Cited by 2,102 · see citing works
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 1,947 · see citing works
Parametric measures of effect size.
Rosenthal, R. (1994) · Cited by 1,856 · see citing works
High resolution of human evolutionary trees with polymorphic microsatellites
Bowcock, A. M., Ruiz‐Linares, A., Tomfohrde, J., Minch, E., Kidd, J. R., & Cavalli-Sforza, L. L. (1994) · Nature · doi:10.1038/368455a0 · Cited by 1,853 · see citing works
Cancer Disparities by Race/Ethnicity and Socioeconomic Status
Ward, E., Jemal, A., Cokkinides, V. E., Singh, G. K., Cardinez, C. J., Ghafoor, A., & Thun, M. J. (2004) · CA A Cancer Journal for Clinicians · doi:10.3322/canjclin.54.2.78 · Cited by 1,796 · see citing works
Genetics in geographically structured populations: defining, estimating and interpreting FST
Holsinger, K. E., & Weir, B. S. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2611 · Cited by 1,422 · see citing works
Melanocyte biology and skin pigmentation
Lin, J. Y., & Fisher, D. E. (2007) · Nature · doi:10.1038/nature05660 · Cited by 1,379 · see citing works
The evolution of human skin coloration
Jablonski, N. G., & Chaplin, G. (2000) · Journal of Human Evolution · doi:10.1006/jhev.2000.0403 · Cited by 1,212 · cited 1× · see citing works
“…to health differences between socially defined racial groups is skin pigmentation: lighter skin has been positively selected among populations at higher latitudes (Jablonski and Chaplin 2000; Relethford 2002; Berg and Coop 2014), but it is also a risk factor for skin cancer (Lin and Fisher 2007).”
BackgroundU.S. Disparities in Health: Descriptions, Causes, and Mechanisms
Adler, N. E., & Rehkopf, D. H. (2008) · Annual Review of Public Health · doi:10.1146/annurev.publhealth.29.020907.090852 · Cited by 1,212 · see citing works
Applied Regression Analysis, Linear Models, and Related Methods
Gray, J. B., & Fox, J. (1998) · Technometrics · doi:10.2307/1270653 · Cited by 1,015 · see citing works
Social Sources Of Racial Disparities In Health
Williams, D. R., & Jackson, P. B. (2005) · Health Affairs · doi:10.1377/hlthaff.24.2.325 · Cited by 943 · see citing works
Population structure in Daphnia obtusa: quantitative genetic and allozymic variation.
Spitze, K. (1993) · Genetics · doi:10.1093/genetics/135.2.367 · Cited by 797 · see citing works
Categorization of humans in biomedical research: genes, race and disease
Risch, N., Burchard, E., Ziv, E., & Tang, H. (2002) · Genome Biology · doi:10.1186/gb-2002-3-7-comment2007 · Cited by 793 · see citing works
Contribution of major diseases to disparities in mortality.
Wong, M. D., Shapiro, M. F., Boscardin, W. J., & Ettner, S. L. (2002) · New England Journal of Medicine · doi:10.1056/nejmsa012979 · Cited by 774 · see citing works
Informativeness of Genetic Markers for Inference of Ancestry*
Rosenberg, N. A., Li, L. M., Ward, R. H., & Pritchard, J. K. (2003) · The American Journal of Human Genetics · doi:10.1086/380416 · Cited by 710 · see citing works
Maximum-likelihood estimation of evolutionary trees from continuous characters.
(1973) · Europe PMC (PubMed Central) · Cited by 700 · see citing works
Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis
Piel, F. B., Patil, A. P., Howes, R. E., Nyangiri, O. A., Gething, P. W., Williams, T. N., Weatherall, D. J., & Hay, S. I. (2010) · Nature Communications · doi:10.1038/ncomms1104 · Cited by 629 · see citing works
Racial and Ethnic Differences in Access to Medical Care
Mayberry, R. M., Mili, F., & Ofili, E. (2000) · Medical Care Research and Review · doi:10.1177/1077558700057001s06 · Cited by 615 · see citing works
Elements of Evolutionary Genetics
Charlesworth, B., & Charlesworth, D. (2010) · Cited by 589 · see citing works
Genome-wide association studies in diverse populations
Rosenberg, N. A., Huang, L., Jewett, E. M., Szpiech, Z. A., Jankovic, I., & Boehnke, M. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2760 · Cited by 566 · see citing works
RACE AND ETHNICITY IN PUBLIC HEALTH RESEARCH: Models to Explain Health Disparities
Dressler, W. W., Oths, K. S., & Gravlee, C. C. (2005) · Annual Review of Anthropology · doi:10.1146/annurev.anthro.34.081804.120505 · Cited by 541 · see citing works
Greenlandic Inuit show genetic signatures of diet and climate adaptation
Fumagalli, M., Moltke, I., Grarup, N., Racimo, F., Bjerregaard, P., Jørgensen, M. E., Korneliussen, T. S., Gerbault, P., Skotte, L., Linneberg, A. R., et al. (2015) · Science · doi:10.1126/science.aab2319 · Cited by 509 · see citing works
An apportionment of human DNA diversity
Barbujani, G., Magagni, A., Minch, E., & Cavalli-Sforza, L. L. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.9.4516 · Cited by 498 · see citing works
Racial and ethnic disparities in the use of health services
Ashton, C. M., Haidet, P., Paterniti, D. A., Collins, T. C., Gordon, H. S., O’Malley, K. J., Petersen, L. A., Sharf, B. F., Suarez-Almazor, M. E., Wray, N. P., et al. (2003) · Journal of General Internal Medicine · doi:10.1046/j.1525-1497.2003.20532.x · Cited by 494 · see citing works
A population genetic signal of polygenic adaptation
Berg, J. J., & Coop, G. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004412 · Cited by 487 · see citing works
QST–FST comparisons: evolutionary and ecological insights from genomic heterogeneity
Leinonen, T., McCairns, R. J. S., O'Hara, R. B., & Merilä, J. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3395 · Cited by 422 · cited 3× · see citing works
“…in humans (Roseman 2004; Roseman and Weaver 2004; Weaver et al. 2007; Relethford 2010) and other organisms (for reviews, see Whitlock 2008; Leinonen et al. 2013), finding that, in the absence of selection, the expected degree to which groups differ on an additive, genetically determined…”
BackgroundMethodEvolutionary inference from <i>Q</i> <sub>ST</sub>
WHITLOCK, M. C. (2008) · Molecular Ecology · doi:10.1111/j.1365-294x.2008.03712.x · Cited by 384 · see citing works
Proportionally more deleterious genetic variation in European than in African populations
Lohmueller, K. E., Indap, A. R., Schmidt, S., Boyko, A. R., Hernandez, R. D., Hubisz, M. J., Sninsky, J. J., White, T. J., Sunyaev, S. R., Nielsen, R., et al. (2008) · Nature · doi:10.1038/nature06611 · Cited by 374 · see citing works
Roseman, C. C. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0402637101 · Cited by 356 · see citing works
Human Population Genetic Structure and Inference of Group Membership
Bamshad, M. J., Wooding, S., Watkins, W. S., Ostler, C. T., Batzer, M. A., & Jorde, L. B. (2003) · The American Journal of Human Genetics · doi:10.1086/368061 · Cited by 330 · see citing works
Deconstructing the relationship between genetics and race
Bamshad, M., Wooding, S., Salisbury, B. A., & Stephens, J. (2004) · Nature reviews genetics · doi:10.1038/nrg1401 · Cited by 316 · see citing works
Apportionment of global human genetic diversity based on craniometrics and skin color
Relethford, J. H. (2002) · American Journal of Physical Anthropology · doi:10.1002/ajpa.10079 · Cited by 294 · see citing works
Human genetic diversity: Lewontin's fallacy
Edwards, A. W. F. (2003) · BioEssays · doi:10.1002/bies.10315 · Cited by 288 · see citing works
Estimating the mutation load in human genomes
Henn, B. M., Botigué, L. R., Bustamante, C. D., Clark, A. G., & Gravel, S. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3931 · Cited by 281 · see citing works
The deleterious mutation load is insensitive to recent population history.
Simons, Y. B., Turchin, M. C., Pritchard, J. K., & Sella, G. (2014) · Nature Genetics · doi:10.1038/ng.2896 · Cited by 279 · see citing works
Postcranial evidence of cold adaptation in European Neandertals
Holliday, T. W. (1997) · American Journal of Physical Anthropology · doi:10.1002/(sici)1096-8644(199710)104:2 · Cited by 278 · see citing works
Lande, R. (1992) · Evolution · doi:10.1111/j.1558-5646.1992.tb02046.x · Cited by 274 · see citing works
Multivariate apportionment of global human craniometric diversity
Roseman, C. C., & Weaver, T. D. (2004) · American Journal of Physical Anthropology · doi:10.1002/ajpa.10424 · Cited by 236 · see citing works
Race, ancestry, and genes: implications for defining disease risk.
Kittles, R., & Weiss, K. (2003) · Annual review of genomics and human genetics (Print) · doi:10.1146/annurev.genom.4.070802.110356 · Cited by 229 · see citing works
Biohistory of slavery and blood pressure differences in blacks today. A hypothesis.
Wilson, T. W., & Grim, C. E. (1991) · Hypertension · doi:10.1161/01.hyp.17.1_suppl.i122 · Cited by 224 · see citing works
Assessing Population Differentiation and Isolation from Single-Nucleotide Polymorphism Data
Nicholson, G., Smith, A. V., Jónsson, F., Gústafsson, Ó., Stefánsson, K., & Donnelly, P. (2002) · Journal of the Royal Statistical Society Series B (Statistical Methodology) · doi:10.1111/1467-9868.00357 · Cited by 223 · see citing works
Do, R., Balick, D. J., Li, H., Adzhubei, I. A., Sunyaev, S. R., & Reich, D. (2015) · Nature Genetics · doi:10.1038/ng.3186 · Cited by 208 · see citing works
Admixture Mapping Comes of Age
Winkler, C., Nelson, G., & Smith, M. W. (2010) · Annual review of genomics and human genetics (Print) · doi:10.1146/annurev-genom-082509-141523 · Cited by 206 · see citing works
Methodological challenges of genome-wide association analysis in Africa
Teo, Y., Small, K. S., & Kwiatkowski, D. P. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2731 · Cited by 195 · see citing works
Were neandertal and modern human cranial differences produced by natural selection or genetic drift?
WEAVER, T., Roseman, C. C., & Stringer, C. B. (2007) · Journal of Human Evolution · doi:10.1016/j.jhevol.2007.03.001 · Cited by 187 · see citing works
Neutral additive genetic variance in a metapopulation
WHITLOCK, M. C. (1999) · Genetical Research · doi:10.1017/s0016672399004127 · Cited by 180 · see citing works
How Criminal System Racial Disparities May Translate into Health Disparities
Iguchi, M. Y. (. Y. )., Bell, J., Ramchand, R. N., & Fain, T. (2005) · Journal of Health Care for the Poor and Underserved · doi:10.1353/hpu.2005.0081 · Cited by 154 · see citing works
Multilocus Genotypes, a Tree of Individuals, and Human Evolutionary History
Mountain, J. L., & Cavalli-Sforza, L. L. (1997) · The American Journal of Human Genetics · doi:10.1086/515510 · Cited by 152 · see citing works
Are QST–FST comparisons for natural populations meaningful?
Pujol, B., Wilson, A. J., Ross, R. I. C., & Pannell, J. R. (2008) · Molecular Ecology · doi:10.1111/j.1365-294x.2008.03958.x · Cited by 149 · see citing works
LaVeist, T. A., Thorpe, R. J., Galarraga, J. E., Bower, K. M., & Gary‐Webb, T. L. (2009) · Journal of General Internal Medicine · doi:10.1007/s11606-009-1085-7 · Cited by 142 · see citing works
RISCH, N. J., Tang, H., Katzenstein, H. M., & Ekstein, J. (2003) · The American Journal of Human Genetics · doi:10.1086/373882 · Cited by 140 · see citing works
POPULATION STRUCTURE AND QUANTITATIVE CHARACTERS
Rogers, A. R., & Harpending, H. C. (1983) · Genetics · doi:10.1093/genetics/105.4.985 · Cited by 135 · see citing works
The Meaning of Binomial Distribution
Edwards, A. W. F. (1960) · Nature · doi:10.1038/1861074a0 · Cited by 135 · see citing works
The distribution of deleterious genetic variation in human populations
Lohmueller, K. E. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2014.09.005 · Cited by 131 · see citing works
Diabetes mellitus in the Pima Indians: Genetic and evolutionary considerations
Knowler, W. C., Pettitt, D. J., Bennett, P. H., & Williams, R. C. (1983) · American Journal of Physical Anthropology · doi:10.1002/ajpa.1330620114 · Cited by 125 · see citing works
Kitcher, P. (2007) · Philosophy & Public Affairs · doi:10.1111/j.1088-4963.2007.00115.x · Cited by 122 · see citing works
Smouse, P. E., Spielman, R. S., & Park, M. H. (1982) · The American Naturalist · doi:10.1086/283925 · Cited by 118 · see citing works
The slavery hypothesis for hypertension among African Americans: the historical evidence.
Curtin, P. D. (1992) · American Journal of Public Health · doi:10.2105/ajph.82.12.1681 · Cited by 106 · see citing works
Chakraborty, R., & Nei, M. (1982) · Genetics Research · doi:10.1017/s0016672300020978 · Cited by 103 · see citing works
The slavery hypertension hypothesis: dissemination and appeal of a modern race theory
Kaufman, J. S., & Hall, S. A. (2003) · Epidemiology · doi:10.1097/00001648-200301000-00027 · Cited by 99 · see citing works
Population‐specific deviations of global human craniometric variation from a neutral model
Relethford, J. H. (2009) · American Journal of Physical Anthropology · doi:10.1002/ajpa.21207 · Cited by 92 · see citing works
Fu, W., Gittelman, R. M., Bamshad, M. J., & Akey, J. M. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.09.006 · Cited by 85 · see citing works
Education, Genetic Ancestry, and Blood Pressure in African Americans and Whites
Non, A. L., Gravlee, C. C., & Mulligan, C. J. (2012) · American Journal of Public Health · doi:10.2105/ajph.2011.300448 · Cited by 72 · see citing works
Leveraging population admixture to characterize the heritability of complex traits
Zaitlen, N., Pasaniuc, B., Sankararaman, S., Bhatia, G., Zhang, J., Gusev, A., Young, T., Tandon, A., Pollack, S., Vilhjálmsson, B. J., et al. (2014) · Nature Genetics · doi:10.1038/ng.3139 · Cited by 63 · see citing works
Hypothesis: A selective advantage for cystic fibrosis heterozygotes
Meindl, R. S. (1987) · American Journal of Physical Anthropology · doi:10.1002/ajpa.1330740104 · Cited by 60 · see citing works
The apportionment of human diversity revisited
Hunley, K., Cabana, G. S., & Long, J. C. (2015) · American Journal of Physical Anthropology · doi:10.1002/ajpa.22899 · Cited by 40 · see citing works
Felsenstein, J. (1986) · The American Naturalist · doi:10.1086/284520 · Cited by 38 · see citing works
Edge, M. D., & Rosenberg, N. A. (2015) · Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences · doi:10.1016/j.shpsc.2014.12.005 · Cited by 32 · see citing works
Asymptotic expansions for sums of nonidentically distributed Bernoulli random variables
Deheuvels, P., PURI, M. L., & Ralescu, S. S. (1989) · Journal of Multivariate Analysis · doi:10.1016/0047-259x(89)90111-5 · Cited by 31 · see citing works
Selection in favor of lysosomal storage disorders?
Zlotogora, J., Zeigler, M., & Bach, G. (1988) · Europe PMC (PubMed Central) · Cited by 22 · see citing works
The cumulative effect of genetic markers on classification performance: Insights from simple models
Tal, O. (2011) · Journal of Theoretical Biology · doi:10.1016/j.jtbi.2011.10.005 · Cited by 15 · see citing works
Sarmiento, E. E. (2001) · Evolutionary Anthropology Issues News and Reviews · doi:10.1002/1520-6505(2001)10:1 · Cited by 1 · see citing works
Skin cancer in African Americans
Halder, R. M., & Bridgeman-Shah, S. (1995) · Cancer · doi:10.1002/1097-0142(19950115)75:2+
Flagged first, then by citations
Research works printed but not linked: 5
- Adler NE, and Rehkopf DH. 2008. US disparities in health: Descriptions, causes, and mechanisms. Annu. Rev. Public Health 29: 235– 252. 18031225
- Bindon JR, and Baker PT. 1997. Bergmann’s rule and the thrifty genotype. Am. J. Phys. Anthropol 104: 201– 210. 9386827
- Brown RA, and Armelagos GJ. 2001. Apportionment of racial diversity: A review. Evol. Anthropol 10: 34– 40.
- Lynch M, and Spitze K 1994. Evolutionary genetics of Daphnia. In Ecological Genetics, Real L, ed. Princeton, NJ: Princeton University Press, 109– 128.
- Whitlock MC 2008. Evolutionary inference from QST. Mol. Ecol 17: 1, 885–1, 896. 18363667
Cited by
Sorted by citations
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
“One key component of the inference of polygenic adaptation is the use of an appropriate null expectation for polygenic score distributions and phenotypic differences [12, 42].”
Evolutionary perspectives on polygenic selection, missing heritability, and GWAS
Uricchio, L. H. (2019) · Human Genetics · doi:10.1007/s00439-019-02040-6 · Cited by 66 · see citing works
Population differentiation of polygenic score predictions under stabilizing selection
Yair, S., & Coop, G. (2022) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2020.0416 · Cited by 58 · see citing works
The evolution of group differences in changing environments
Harpak, A., & Przeworski, M. (2021) · PLOS Biology · doi:10.1371/journal.pbio.3001072 · Cited by 50 · see citing works
“, [29,30,39,74,75,82]): The mean polygenic effect could differ substantially even when the mean trait value does not differ at all (Fig 2, case A).”
BackgroundPaul, K. S., & Stojanowski, C. M. (2017) · American Journal of Physical Anthropology · doi:10.1002/ajpa.23260 · Cited by 28 · see citing works
The background and legacy of Lewontin's apportionment of human genetic diversity
Novembre, J. (2022) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2020.0406 · Cited by 20 · see citing works
Smith, S. P., Shahamatdar, S., Cheng, W., Zhang, S., Paik, J., Graff, M., Haiman, C. A., Matise, T. C., North, K. E., Peters, U., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.03.005 · Cited by 17 · see citing works
Schraiber, J. G., & Edge, M. D. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2319496121 · Cited by 17 · see citing works
Diversity and its causes: Lewontin on racism, biological determinism and the adaptationist programme
Shen, H., & Feldman, M. W. (2022) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2020.0417 · Cited by 16 · see citing works
Kim, J., Edge, M. D., Goldberg, A., & Rosenberg, N. (2021) · American Journal of Physical Anthropology · doi:10.1002/ajpa.24261 · Cited by 12 · see citing works
Chande, A. T., Rishishwar, L., Ban, D., Nagar, S. D., Conley, A. B., Rowell, J. L., Valderrama-Aguirre, A., Medina-Rivas, M. A., & Jordan, I. K. (2020) · Genome Biology and Evolution · doi:10.1093/gbe/evaa154 · Cited by 11 · see citing works
The Effects of Demography and Genetics on the Neutral Distribution of Quantitative Traits
Koch, E. M. (2018) · Genetics · doi:10.1534/genetics.118.301839 · Cited by 10 · see citing works
Existence and implications of population variance structurePreprint
Musharoff, S. A., Park, D. S., Dahl, A. W., Galanter, J., Liu, X., Huntsman, S., Eng, C. S., Burchard, E. G., Ayroles, J. F., & Zaitlen, N. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/439661 · Cited by 6 · see citing works
scAI-SNP: a method for inferring ancestry from single-cell data
Hong, S. C., Muyas, F., Cortés‐Ciriano, I., & Hormoz, S. (2025) · BMC Methods · doi:10.1186/s44330-025-00029-4 · Cited by 2 · see citing works
Error rates in QST–FST comparisons depend on genetic architecture and estimation procedures
Liu, J. J., & Edge, M. D. (2025) · Genetics · doi:10.1093/genetics/iyaf034 · Cited by 2 · see citing works
The Genetic Anthropologist's Contribution to Understanding Race and Racial Health Disparities
Bigham, A. W., & Non, A. L. (2015) · Human Biology · doi:10.13110/humanbiology.87.4.0291 · Cited by 2 · see citing works
Misestimation of Expected Genetic Differences – A Statistical Note on Some Recent PapersPreprint
Fuerst, J. G. R. (2025) · Qeios · doi:10.32388/10cr70
Misestimation of Expected Genetic Differences: A Statistical Note on Some Recent PapersPreprint
Fuerst, J. G. R. (2025) · Qeios · doi:10.32388/10cr70.2
- Authors
- Edge, & Rosenberg
- Venue
- Human Biology
- Publisher
- Project MUSE
- Published
- 2015
- Volume
- 87
- Issue
- 4
- Pages
- 313
- ISSN
- 0018-7143 (ISSN-L)
- PMC
- PMC8504698
- OpenAlex
- W2529998249
- Cited by
- 18
- References
- 85
- Citations by year
- 2025: 4 · 2024: 1 · 2022: 4 · 2021: 2 · 2020: 1 · 2019: 2 · 2018: 2 · 2017: 1 · 2015: 1
- FWCI
- 0.92
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Human Biology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Human Biology (submittedVersion)
- Project Muse (Johns Hopkins University) (submittedVersion)
- BioOne Complete (BioOne) (submittedVersion)
- Funders
- National Science Foundation (1458059)
- National Institutes of Health
- National Human Genome Research Institute (R01HG005855)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Keywords
- human genetic variation, phenotypic diversity, genetic differentiation, quantitative traits, neutral loci, additive genetic model, genotype-phenotype mapping, health outcomes, heritability
- MeSH terms
- Algorithms, Gene Frequency, Genetics, Population, Humans, Models, Genetic, Phenotype, Selection, Genetic, Genetic Variation, Quantitative Trait Loci, Genetic Drift, Health Status Disparities
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