Genetic Structure of Human Populations

2002/12/20 by Noah A. Rosenberg, Jonathan K. Pritchard, James L. Weber +4 · 90 citations
Biochemistry, Genetics and Molecular Biology · #Race, Genetics, and Society #Genetic Associations and Epidemiology #Forensic and Genetic Research

paper · doi:10.1126/science.1078311

openalex publication_date 2002/12/20 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/04

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.

Cited by

• Use of Y Chromosome and Mitochondrial DNA Population Structure in Tracing Human Migrations
• River Valleys Shaped the Maternal Genetic Landscape of Han Chinese
• Mitogenomic and microsatellite variation in descendants of the founder population of Newfoundland: high genetic diversity in an historically isolated population
• Over the sands and far away: Interpreting an Iberian mitochondrial lineage with ancient Western African origins
• Sex-Specific Genetic Structure and Social Organization in Central Asia: Insights from a Multi-Locus Study
• Signatures of the Preagricultural Peopling Processes in Sub-Saharan Africa as Revealed by the Phylogeography of Early Y Chromosome Lineages
• Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge
• European Roma groups show complex West Eurasian admixture footprints and a common South Asian genetic origin
• Consanguinity, human evolution, and complex diseases
• The Tupí-Guaraní language family
• In the heartland of Eurasia: the multilocus genetic landscape of Central Asian populations
• The Genetic Structure of Pacific Islanders
• Intelligence, race, and genetics.
• Le processus de victimité secondaire chez l’enfant victime d’agression à caractère sexuel : double approche, victimologie clinique, psychologie judiciaire : appréhension par le discours de professionnels du parcours socio-judiciaire
• Genetic Signatures of Strong Recent Positive Selection at the Lactase Gene
• Assessment of young children's social‐emotional development and psychopathology: recent advances and recommendations for practice
• Characterizing the admixed African ancestry of African Americans
• Ongoing Adaptive Evolution of ASPM , a Brain Size Determinant in Homo sapiens
• Genetic Variation and Population Structure in Native Americans
• Late Pleistocene Demography and the Appearance of Modern Human Behavior
• A Geographically Explicit Genetic Model of Worldwide Human-Settlement History
• The Role of Geography in Human Adaptation
• Features of Evolution and Expansion of Modern Humans, Inferred from Genomewide Microsatellite Markers
• Tracing the peopling of the world through genomics
• The beautiful skull and Blumenbach’s errors: the birth of the scientific concept of race
• Global variation in copy number in the human genome
• Taiwan Y-chromosomal DNA variation and its relationship with Island Southeast Asia
• Race and global patterns of phenotypic variation
• The global pattern of gene identity variation reveals a history of long‐range migrations, bottlenecks, and local mate exchange: Implications for biological race
• Is urbanization scrambling the genetic structure of human populations? A case study
• The Genetic Structure and History of Africans and African Americans
• Early Back-to-Africa Migration into the Horn of Africa
• African human diversity, origins and migrations
• The Pattern of Polymorphism in Arabidopsis thaliana
• Race reconciled?: How biological anthropologists view human variation
• Non-Darwinian estimation: My ancestors, my genes' ancestors
• European Population Substructure: Clustering of Northern and Southern Populations
• A newly discovered founder population: the Roma/Gypsies
• Population-genetic comparison of the Sorbian isolate population in Germany with the German KORA population using genome-wide SNP arrays
• Close genetic relationship between central Thai and Mon people in Thailand revealed by autosomal microsatellites
• Clines, Clusters, and the Effect of Study Design on the Inference of Human Population Structure
• Genome-Wide SNP Analysis Reveals Population Structure and Demographic History of the Ryukyu Islanders in the Southern Part of the Japanese Archipelago
• Why the Nonexistence of Biological Races Does Not Mean the Nonexistence of Racism
• Hierarchical modeling of genome‐wide Short Tandem Repeat (STR) markers infers native American prehistory
• The History of African Gene Flow into Southern Europeans, Levantines, and Jews
• Mapping Human Genetic Diversity in Asia
• Mitochondrial DNA and Y chromosome diversity and the peopling of the Americas: Evolutionary and demographic evidence
• Korean, Japanese, and Chinese populations featured similar genes encoding drug-metabolizing enzymes and transporters
• Population genomics of East Asian ethnic groups
• Improving population-specific allele frequency estimates by adapting supplemental data: An empirical Bayes approach
• Dissecting the genetic structure of Korean population using genome-wide SNP arrays
• Genetic Homogeneity Across Bantu-Speaking Groups from Mozambique and Angola Challenges Early Split Scenarios between East and West Bantu Populations
• Estimating the Impact of Prehistoric Admixture on the Genome of Europeans
• Species delimitation in lemurs: multiple genetic loci reveal low levels of species diversity in the genus Cheirogaleus
• Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation
• High-Dimensional Robust Mean Estimation via Gradient Descent
• Genomic structure in Europeans dating back at least 36,200 years
• A Road Map to Strong Intelligence
• Genetic Landscape of Eurasia and “Admixture” in Uyghurs
• Echoes of the Past: Hereditarianism and A Troublesome Inheritance
• IrisPlex: A sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information
• Accounting for ancestry: population substructure and genome-wide association studies
• Genomic reconstruction of the history of extant populations of India reveals five distinct ancestral components and a complex structure
• Turkish Population Structure and Genetic Ancestry Reveal Relatedness among Eurasian Populations
• Shared and Unique Components of Human Population Structure and Genome-Wide Signals of Positive Selection in South Asia
• A Genetic Atlas of Human Admixture History
• Investigating the West Eurasian ancestry of Pakistani Hazaras
• Diversity and Divergence Among the Tribal Populations of India
• Разработка системы управления мобильным роботом
• The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time
• Virus-Host Interactions Shape Viral Dispersal Giving Rise to Distinct Classes of Traveling Waves in Spatial Expansions
• The great human expansion
• Mutations in Collagen Genes in the Context of an Isolated Population
• Augmentation schemes for particle MCMC
• Implications for health and disease in the genetic signature of the Ashkenazi Jewish population
• Demographic Histories, Isolation and Social Factors as Determinants of the Genetic Structure of Alpine Linguistic Groups
• A genome wide pattern of population structure and admixture in peninsular Malaysia Malays
• A Genome-wide Analysis of Admixture in Uyghurs and a High-Density Admixture Map for Disease-Gene Discovery
• North Asian population relationships in a global context
• Detecting past changes of effective population size
• Population structure and genome-wide patterns of variation in Ireland and Britain
• Congruence of individual cranial bone morphology and neutral molecular affinity patterns in modern humans
• The relative efficacy of functional and developmental cranial modules for reconstructing global human population history
• Insights into human genetic variation and population history from 929 diverse genomes
• The Kalash Genetic Isolate: Ancient Divergence, Drift, and Selection
• Low Levels of Genetic Divergence across Geographically and Linguistically Diverse Populations from India
• Ashkenazi Jews [wikipedia]
• Caucasian race [wikipedia]
• Hazaras [wikipedia]
• White people [wikipedia]