The DOI matches its Crossref record.
Genetic Structure of Human Populations
Abstract
We studied human population structure using genotypes at 377 autosomal microsatellite loci in 1056 individuals from 52 populations. Within-population differences among individuals account for 93 to 95% of genetic variation; differences among major groups constitute only 3 to 5%. Nevertheless, without using prior information about the origins of individuals, we identified six main genetic clusters, five of which correspond to major geographic regions, and subclusters that often correspond to individual populations. General agreement of genetic and predefined populations suggests that self-reported ancestry can facilitate assessments of epidemiological risks but does not obviate the need to use genetic information in genetic association studies.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Africans have the greatest genetic diversity among all extant human populations.
“Indeed, Africans have the greatest genetic diversity among all extant human populations (Rosenberg et al., 2002).”
From The evolution of human skin pigmentation: A changing medley of vitamins, genetic variability, and UV radiation during human expansion (2023) · cites this paper as Rosenberg et al., 2002
Citations
Cites
No references could be resolved yet.
Research works printed but not linked: 25
- 10.1101/gr.99202 · DOI · Paper page
- 10.1126/science.296.5566.261b · DOI
- Lewontin R. C., Evol. Biol. 6, 381 (1972).
- 10.1086/283624 · DOI
- 10.1073/pnas.94.9.4516 · DOI · Paper page
- 10.1086/302825 · DOI
- 10.1002/1520-6505(2001)10:1<34::AID-EVAN1011>3.0.CO;2-P · DOI
- 10.1101/gr.214902 · DOI
- 10.1038/368455a0 · DOI
- 10.1086/515510 · DOI
- 10.1093/genetics/155.2.945 · DOI
- 10.1086/339929 · DOI
- J. Haywood The Penguin Historical Atlas of the Vikings (Penguin Books London 1995).
- 10.1093/genetics/159.2.699 · DOI
- 10.1016/S0065-2660(01)42016-5 · DOI
- Rogers A. R., Jorde L. B., Am. J. Hum. Genet. 58, 1033 (1996).
- 10.1093/oxfordjournals.molbev.a025662 · DOI
- 10.1038/ng761 · DOI
- commentN. Risch E. Burchard E. Ziv H. Tang Genome Biol. 3 2007.1 (2002). · DOI
- Thomas D. C., Witte J. S., Cancer Epidemiol. Biomark. Prev. 11, 505 (2002).
- Wacholder S., Rothman N., Caporaso N., Cancer Epidemiol. Biomark. Prev. 11, 513 (2002).
- 10.1006/tpbi.2001.1543 · DOI
- 10.1016/S0168-9525(02)02781-6 · DOI
- 10.1038/hdy.1995.41 · DOI
- 10.1038/sj.ejhg.5200151 · DOI
Cited by
Sorted by citations
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
Inferring weak population structure with the assistance of sample group information
HUBISZ, M. J., FALUSH, D., STEPHENS, M., & PRITCHARD, J. K. (2009) · Molecular Ecology Resources · doi:10.1111/j.1755-0998.2009.02591.x · Cited by 3,475
Self-citationA reference panel of 64,976 haplotypes for genotype imputation
the Haplotype Reference Consortium (2016) · Nature Genetics · doi:10.1038/ng.3643 · Cited by 2,836
Inference of population splits and mixtures from genome-wide allele frequency data
Pickrell, J. K., & Pritchard, J. K. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002967 · Cited by 2,731
Self-citationGenome-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
The Genetic Structure and History of Africans and African Americans
Tishkoff, S. A., Reed, F. A., Friedlaender, F. R., Ehret, C., Ranciaro, A., Froment, A., Hirbo, J. B., Awomoyi, A. A., Bodo, J.-M., Doumbo, O., et al. (2009) · Science · doi:10.1126/science.1172257 · Cited by 1,573
Self-citationBayesian species delimitation using multilocus sequence data
Yang, Z., & Rannala, B. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0913022107 · Cited by 1,405
Binder, E. B. (2008) · JAMA · doi:10.1001/jama.299.11.1291 · Cited by 1,362
Inference of Population Structure using Dense Haplotype Data
Lawson, D. J., Hellenthal, G., Myers, S., & Falush, D. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002453 · Cited by 1,188
Insights into human genetic variation and population history from 929 diverse genomes
Bergström, A., McCarthy, S. A., Hui, R., Almarri, M. A., Ayub, Q., Danecek, P., Chen, Y., Felkel, S., Hallast, P., Kamm, J., et al. (2020) · Science · doi:10.1126/science.aay5012 · Cited by 1,020
Self-citationTracing the peopling of the world through genomics
Nielsen, R., Akey, J. M., Jakobsson, M., Pritchard, J. K., Tishkoff, S., & Willerslev, E. (2017) · Nature · doi:10.1038/nature21347 · Cited by 728
Self-citationSignals of recent positive selection in a worldwide sample of human populations
Pickrell, J. K., Coop, G., Novembre, J., Kudaravalli, S., Li, J. Z., Absher, D., Srinivasan, B. S., Barsh, G. S., Myers, R. M., Feldman, M. W., et al. (2009) · Genome Research · doi:10.1101/gr.087577.108 · Cited by 717
Self-citationA module map showing conditional activity of expression modules in cancer
Segal, E., Friedman, N., Koller, D., & Regev, A. (2004) · Nature Genetics · doi:10.1038/ng1434 · Cited by 685
Variants in Nicotinic Receptors and Risk for Nicotine Dependence
Bierut, L. J., Stitzel, J. A., Wang, J. C., Hinrichs, A. L., Grucza, R. A., Xuei, X., Saccone, N. L., Saccone, S. F., Bertelsen, S., Fox, L., et al. (2008) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2008.07111711 · Cited by 648
Bradley, R. G., Binder, E. B., Epstein, M. P., Tang, Y., Nair, H. P., Liu, W., Gillespie, C. F., Berg, T., Evces, M., Newport, D. J., et al. (2008) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2007.26 · Cited by 643
A tutorial on how not to over-interpret STRUCTURE and ADMIXTURE bar plots
Lawson, D. J., van Dorp, L., & Falush, D. (2018) · Nature Communications · doi:10.1038/s41467-018-05257-7 · Cited by 560
A population genetic signal of polygenic adaptation
Berg, J. J., & Coop, G. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004412 · Cited by 487
Genetic architecture: the shape of the genetic contribution to human traits and disease
Timpson, N. J., Greenwood, C. M. T., Soranzo, N., Lawson, D. J., & Richards, J. B. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.101 · Cited by 434
Inferring admixture histories of human populations using linkage disequilibrium
Loh, P.-R., Lipson, M., Patterson, N., Moorjani, P., Pickrell, J. K., Reich, D., & Berger, B. (2013) · Genetics · doi:10.1534/genetics.112.147330 · Cited by 466
The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA
Walsh, S., Liu, F., Wollstein, A., Kovatsi, L., Ralf, A., Kosiniak-Kamysz, A., Branicki, W., & Kayser, M. (2013) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2012.07.005 · Cited by 428
Abundant contribution of short tandem repeats to gene expression variation in humans
Gymrek, M., Willems, T., Guilmatre, A., Zeng, H., Markus, B., Georgiev, S., Daly, M. J., Price, A. L., Pritchard, J. K., Sharp, A. J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3461 · Cited by 410
Self-citationThe role of geography in human adaptation
Coop, G., Pickrell, J. K., Novembre, J., Kudaravalli, S., Li, J., Absher, D., Myers, R. M., Cavalli-Sforza, L. L., Feldman, M. W., & Pritchard, J. K. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000500 · Cited by 412
Self-citationHuman cranial anatomy and the differential preservation of population history and climate signatures
Harvati, K., & Weaver, T. D. (2006) · The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology · doi:10.1002/ar.a.20395 · Cited by 396
The genetic structure of Pacific Islanders
Friedlaender, J. S., Friedlaender, F. R., Reed, F. A., Kidd, K. K., Kidd, J. R., Chambers, G. K., Lea, R. A., Loo, J.-H., Koki, G., Hodgson, J. A., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.0040019 · Cited by 359
Self-citationRoseman, C. C. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0402637101 · Cited by 356
Adipose tissue in muscle: a novel depot similar in size to visceral adipose tissue
Gallagher, D., Kuznia, P., Heshka, S., Albu, J., Heymsfield, S. B., Goodpaster, B., Visser, M., & Harris, T. B. (2005) · The American Journal of Clinical Nutrition · doi:10.1093/ajcn/81.4.903 · Cited by 354
Global diversity, population stratification, and selection of human copy-number variation
Sudmant, P. H., Mallick, S., Nelson, B. J., Hormozdiari, F., Krumm, N., Huddleston, J., Coe, B. P., Baker, C., Nordenfelt, S., Bamshad, M., et al. (2015) · Science · doi:10.1126/science.aab3761 · Cited by 345
The landscape of human STR variation
Willems, T., Gymrek, M., Highnam, G., The 1000 Genomes Project Consortium, Mittelman, D., & Erlich, Y. (2014) · Genome Research · doi:10.1101/gr.177774.114 · Cited by 283
Genomic structure in Europeans dating back at least 36,200 years
Seguin-Orlando, A., Korneliussen, T. S., Sikora, M., Malaspinas, A.-S., Manica, A., Moltke, I., Albrechtsen, A., Ko, A., Margaryan, A., Moiseyev, V., et al. (2014) · Science · doi:10.1126/science.aaa0114 · Cited by 315
Nelson, M. R., Bryc, K., King, K. S., Indap, A., Boyko, A. R., Novembre, J., Briley, L. P., Maruyama, Y., Waterworth, D. M., Waeber, G., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.08.005 · Cited by 293
Halder, I., Shriver, M., Thomas, M., Fernandez, J. R., & Frudakis, T. (2008) · Human Mutation · doi:10.1002/humu.20695 · Cited by 274
Voight, B. F., Adams, A. M., Frisse, L. A., Qian, Y., Hudson, R. R., & Di Rienzo, A. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0507325102 · Cited by 262
Atzmon, G., Hao, L., Pe'er, I., Velez, C., Pearlman, A., Palamara, P. F., Morrow, B., Friedman, E., Oddoux, C., Burns, E., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.015 · Cited by 260
Intersection of population variation and autoimmunity genetics in human T cell activation
Ye, C. J., Feng, T., Kwon, H.-K., Raj, T., Wilson, M. T., Asinovski, N., McCabe, C., Lee, M. H., Frohlich, I., Paik, H.-I., et al. (2014) · Science · doi:10.1126/science.1254665 · Cited by 236
European Ancestry as a Risk Factor for Atrial Fibrillation in African Americans
Marcus, G. M., Alonso, A., Peralta, C. A., Lettre, G., Vittinghoff, E., Lubitz, S. A., Fox, E. R., Levitzky, Y. S., Mehra, R., Kerr, K. F., et al. (2010) · Circulation · doi:10.1161/circulationaha.110.958306 · Cited by 255
Ruiz-Núñez, B., Pruimboom, L., Dijck-Brouwer, D. A. J., & Muskiet, F. A. J. (2013) · The Journal of Nutritional Biochemistry · doi:10.1016/j.jnutbio.2013.02.009 · Cited by 246
Higher Levels of Neanderthal Ancestry in East Asians than in Europeans
Wall, J. D., Yang, M. A., Jay, F., Kim, S. K., Durand, E. Y., Stevison, L. S., Gignoux, C., Woerner, A., Hammer, M. F., & Slatkin, M. (2013) · Genetics · doi:10.1534/genetics.112.148213 · Cited by 249
Lao, O., de Gruijter, J. M., van Duijn, K., Navarro, A., & Kayser, M. (2007) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2006.00341.x · Cited by 231
Darwin in Mind: New Opportunities for Evolutionary Psychology
Bolhuis, J. J., Brown, G. R., Richardson, R. C., & Laland, K. N. (2011) · PLoS Biology · doi:10.1371/journal.pbio.1001109 · Cited by 242
Evolutionary toggling of the MAPT 17q21.31 inversion region
Zody, M. C., Jiang, Z., Fung, H.-C., Antonacci, F., Hillier, L. W., Cardone, M. F., Graves, T. A., Kidd, J. M., Cheng, Z., Abouelleil, A., et al. (2008) · Nature Genetics · doi:10.1038/ng.193 · Cited by 227
Codiversification of gut microbiota with humans
Suzuki, T. A., Fitzstevens, J. L., Schmidt, V. T., Enav, H., Huus, K. E., Mbong Ngwese, M., Grießhammer, A., Pfleiderer, A., Adegbite, B. R., Zinsou, J. F., et al. (2022) · Science · doi:10.1126/science.abm7759 · Cited by 210
Systematic reviews of animal models: methodology versus epistemology
Greek, R., & Menache, A. (2013) · International Journal of Medical Sciences · doi:10.7150/ijms.5529 · Cited by 207
Abandon “Race.” Focus on Racism
Braveman, P., & Parker Dominguez, T. (2021) · Frontiers in Public Health · doi:10.3389/fpubh.2021.689462 · Cited by 171
Ancestry analysis in the 11-M Madrid bomb attack investigation
Phillips, C., Prieto, L., Fondevila, M., Salas, A., Gómez-Tato, A., Álvarez-Dios, J., Alonso, A., Blanco-Verea, A., Brión, M., Montesino, M., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0006583 · Cited by 149
McEvoy, B., Beleza, S., & Shriver, M. D. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl217 · Cited by 148
Worldwide distribution of NAT2 diversity: Implications for NAT2 evolutionary history
Sabbagh, A., Langaney, A., Darlu, P., Gérard, N., Krishnamoorthy, R., & Poloni, E. S. (2008) · BMC Genetics · doi:10.1186/1471-2156-9-21 · Cited by 147
Domingue, B. W., Belsky, D. W., Conley, D., Harris, K. M., & Boardman, J. D. (2015) · AERA Open · doi:10.1177/2332858415599972 · Cited by 265
The female protective effect against autism spectrum disorder
Wigdor, E. M., Weiner, D. J., Grove, J., Fu, J. M., Thompson, W. K., Carey, C. E., Baya, N., van der Merwe, C., Walters, R. K., Satterstrom, F. K., et al. (2021) · doi:10.1101/2021.03.29.21253866 · Cited by 124
The female protective effect against autism spectrum disorder
Wigdor, E. M., Weiner, D. J., Grove, J., Fu, J. M., Thompson, W. K., Carey, C. E., Baya, N., van der Merwe, C., Walters, R. K., Satterstrom, F. K., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100134 · Cited by 124
Swilley-Martinez, M. E., Coles, S. A., Miller, V. E., Alam, I. Z., Fitch, K. V., Cruz, T. H., Hohl, B., Murray, R., & Ranapurwala, S. I. (2023) · Epidemiologic Reviews · doi:10.1093/epirev/mxad010 · Cited by 123
Ancestral components of admixed genomes in a Mexican cohort
Johnson, N. A., Coram, M. A., Shriver, M. D., Romieu, I., Barsh, G. S., London, S. J., & Tang, H. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002410 · Cited by 114
Martinez, R. A. M., Andrabi, N., Goodwin, A. N., Wilbur, R. E., Smith, N. R., & Zivich, P. N. (2023) · American Journal of Epidemiology · doi:10.1093/aje/kwac146 · Cited by 110
Ecological influences on human behavioural diversity: a review of recent findings
Nettle, D. (2009) · Trends in Ecology & Evolution · doi:10.1016/j.tree.2009.05.013 · Cited by 95
Maglo, K. N., Mersha, T. B., & Martin, L. J. (2016) · Frontiers in Genetics · doi:10.3389/fgene.2016.00022 · Cited by 106
von Cramon‐Taubadel, N. (2011) · American Journal of Physical Anthropology · doi:10.1002/ajpa.21550 · Cited by 91
Racial admixture and its impact on BMI and blood pressure in African and Mexican Americans
Tang, H., Jorgenson, E., Gadde, M., Kardia, S. L. R., Rao, D. C., Zhu, X., Schork, N. J., Hanis, C. L., & Risch, N. (2006) · Human Genetics · doi:10.1007/s00439-006-0175-4 · Cited by 87
Generalized Analysis of Molecular Variance
Nievergelt, C. M., Libiger, O., & Schork, N. J. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030051 · Cited by 80
Clines Without Classes: How to Make Sense of Human Variation
Fujimura, J. H., Bolnick, D. A., Rajagopalan, R., Kaufman, J. S., Lewontin, R. C., Duster, T., Ossorio, P., & Marks, J. (2014) · Sociological Theory · doi:10.1177/0735275114551611 · Cited by 76
Considerations Relating to the Study of Group Differences in Intelligence
Hunt, E., & Carlson, J. (2007) · Perspectives on Psychological Science · doi:10.1111/j.1745-6916.2007.00037.x · Cited by 64
Shin, G., Grimes, S. M., Lee, H., Lau, B. T., Xia, L. C., & Ji, H. P. (2017) · Nature Communications · doi:10.1038/ncomms14291 · Cited by 54
Kuipers, R. S., Joordens, J. C. A., & Muskiet, F. A. J. (2012) · Nutrition Research Reviews · doi:10.1017/s0954422412000017 · Cited by 43
Janus‐faced race: Is race biological, social, or mythical?
Hochman, A. (2021) · American Journal of Physical Anthropology · doi:10.1002/ajpa.24169 · Cited by 35
Lucock, M. D. (2023) · American Journal of Biological Anthropology · doi:10.1002/ajpa.24564 · Cited by 35
Comparison of Genetic Distance Measures Using Human SNP Genotype Data
Libiger, O., Nievergelt, C. M., & Schork, N. J. (2009) · Human Biology · doi:10.3378/027.081.0401 · Cited by 34
Oishi, T., Uraguchi, K., Takahashi, K., & Masuda, R. (2011) · Journal of Heredity · doi:10.1093/jhered/esq091 · Cited by 26
Population Genetic Structure and Origins of Native Hawaiians in the Multiethnic Cohort Study
Kim, S. K., Gignoux, C. R., Wall, J. D., Lum-Jones, A., Wang, H., Haiman, C. A., Chen, G. K., Henderson, B. E., Kolonel, L. N., Le Marchand, L., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0047881 · Cited by 23
“We selected a subset of individuals from the Human Genetic Diversity Panel (HGDP; n = 466) [68-70] (Table S1) that included samples from two Oceanic populations (Papuans and Melanesians), European ancestry (Utah residents from the CEPH population, Sardinians, Tuscans, French, Italians, and Russians), Africa (Yoruba, B…”
MethodContinuity of Genetic Risk for Aggressive Behavior Across the Life-Course
van der Laan, C. M., Morosoli-García, J. J., van de Weijer, S. G. A., Colodro-Conde, L., the ACTION Consortium, Ip, H. F., van der Laan, C. M., Krapohl, E. M. L., Brikell, I., Sánchez-Mora, C., et al. (2021) · Behavior Genetics · doi:10.1007/s10519-021-10076-6 · Cited by 24
Children in Diverse Social Contexts
Murry, V. M., Hill, N. E., Witherspoon, D., Berkel, C., & Bartz, D. (2015) · Handbook of Child Psychology and Developmental Science · doi:10.1002/9781118963418.childpsy411 · Cited by 23
Edge, & Rosenberg (2015) · Human Biology · doi:10.13110/humanbiology.87.4.0313 · Cited by 18
Prion genotypes in Central America suggest selection for the V129 allele
Hardy, J., Scholz, S., Evans, W., Goldfarb, L., & Singleton, A. (2006) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30248 · Cited by 7
Metadata
- Authors
- Rosenberg, N. A., Pritchard, J. K., Weber, J. L., Cann, H. M., Kidd, K. K., Zhivotovsky, L. A., & Feldman, M. W.
- Affiliations
- Molecular and Computational Biology, 1042 West 36th Place DRB 289, University of Southern California, Los Angeles, CA 90089, USA.
- Department of Human Genetics, University of Chicago, 920 East 58th Street, Chicago, IL 60637, USA.
- Center for Medical Genetics, Marshfield Medical Research Foundation, Marshfield, WI 54449, USA.
- Foundation Jean Dausset–Centre d'Etude du Polymorphisme Humain (CEPH), 27 rue Juliette Dodu, 75010 Paris, France.
- Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA.
- Vavilov Institute of General Genetics, Russian Academy of Sciences, 3 Gubkin Street, Moscow 117809, Russia.
- Department of Biological Sciences, Stanford University, Stanford, CA 94305, USA.
- Venue
- Science
- Published
- 2002-12-20
- Volume
- 298
- Issue
- 5602
- Pages
- 2381-2385
- ISSN
- 0036-8075
- 1095-9203
- Cited by
- 2,222
- References
- 0
- Language
- en
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review