Cited by 111Genetic Associations and EpidemiologyForensic and Genetic ResearchGenetic Mapping and Diversity in Plants and Animals

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Overview of Admixture Mapping

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Shriner, Daniel·2013·Current Protocols in Human Genetics

DOI 10.1002/0471142905.hg0123s76PMC PMC3556814

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Abstract

Admixture mapping is a powerful method of gene mapping for diseases or traits that show differential risk by ancestry. Admixture mapping has been applied most often to African Americans who trace ancestry to Europeans and West Africans. Recent developments in admixture mapping include improvements in methods to take advantage of higher densities of genetic variants, as well as extensions to admixed populations with three or more ancestral populations, such as Latino Americans. In this unit, the author outlines the key concepts of admixture mapping. The author describes several approaches for inferring local ancestry and provides strategies for performing admixture mapping depending on the study design. Finally, the author compares and contrasts linkage analysis, association analysis, and admixture mapping, with an emphasis on integrating admixture mapping and association testing. Curr. Protoc. Hum. Genet. 76:1.23.1‐1.23.8. © 2013 by John Wiley & Sons, Inc.

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Chan, T. F., Rui, X., Conti, D. V., Fornage, M., Graff, M., Haessler, J., Haiman, C., Highland, H. M., Jung, S. Y., Kenny, E. E., et al. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.09.012 · Cited by 10
Selection on a pleiotropic color gene block underpins early differentiation between two warbler speciesPreprint
Wang, S., Rohwer, S. A., de Zwaan, D. R., Toews, D. P. L., Lovette, I. J., Mackenzie, J., & Irwin, D. E. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/853390 · Cited by 8
Population genomics of Marchantia polymorpha subsp. ruderalis reveals evidence of climate adaptation
Wu, S., Jandrasits, K., Swarts, K., Rötzer, J., Akimcheva, S., Shimamura, M., Hisanaga, T., Berger, F., & Dolan, L. (2025) · Current Biology · doi:10.1016/j.cub.2025.01.008 · Cited by 7
Integrative genomic analysis in African American children with asthma finds three novel loci associated with lung function
Goddard, P. C., Keys, K. L., Mak, A. C. Y., Lee, E. Y., Liu, A. K., Samedy-Bates, L.-A., Risse-Adams, O. S., Contreras, M. G., Elhawary, J. R., Hu, D., et al. (2020) · Genetic Epidemiology · doi:10.1002/gepi.22365 · Cited by 8
“performed admixture mapping, a technique designed to identify regions of the genome where locus‐ specific ancestry drives variation in a disease trait (Shriner, 2013) that has been helpful in studies of complex diseases, including asthma and breast cancer (Féjerman et al.”
Method
Asthma—Genomic Advances Toward Risk Prediction
Luis, E. H., Martin‐Almeida, M., & Pino-Yanes, M. D. M. (2024) · Clinics in Chest Medicine · doi:10.1016/j.ccm.2024.03.002 · Cited by 9
Undercutting efforts of precision medicine: roadblocks to minority representation in breast cancer clinical trials
Saini, G., Gogineni, K., Kittles, R. A., & Aneja, R. (2021) · Breast Cancer Research and Treatment · doi:10.1007/s10549-021-06264-x · Cited by 8
A map of climate change-driven natural selection in Arabidopsis thalianaPreprint
Expósito‐Alonso, M., 500 Genomes Field Experiment Team, Burbano, H. A., Bossdorf, O., Nielsen, R., & Weigel, D. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/321133 · Cited by 7
Admixture mapping reveals loci for carcass mass in red deer x sika hybrids in Kintyre, Scotland
McFarlane, S. E., & Pemberton, J. M. (2021) · G3 Genes Genomes Genetics · doi:10.1093/g3journal/jkab274 · Cited by 7
Population structure and selective signature of Kirghiz sheep by Illumina Ovine SNP50 BeadChip
Yang, R., Han, Z., Zhou, W., Li, X., Zhang, X., Zhu, L., Wang, J., Li, X., Zhang, C.-L., Han, Y., et al. (2024) · PeerJ · doi:10.7717/peerj.17980 · Cited by 6
“We conducted an analysis of K values (representing the number of ancestral populations) from two to six using the admixture software (version 1.3.0) ( Shriner, 2023 ; Montana & Hoggart, 2007 ; Tang et al., 2005 ).”
MethodInfluential
Social and scientific motivations to move beyond groups in allele frequencies: The TOPMed experience
Nelson, S. C., Gogarten, S. M., Fullerton, S. M., Isasi, C. R., Mitchell, B. D., North, K. E., Rich, S. S., Taylor, M. R., Zöllner, S. K., & Sofer, T. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.07.008 · Cited by 6
Admixture mapping of pelvic organ prolapse in African Americans from the Women’s Health Initiative Hormone Therapy trial
Giri, A., Hartmann, K. E., Aldrich, M. C., Ward, R. M., Wu, J. M., Park, A. J., Graff, M., Qi, L., Nassir, R., Wallace, R. B., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0178839 · Cited by 6
Eugenics, Admixture, and Multiculturalism in Twentieth-Century Northern Sweden: Contesting Disability and Sámi Genocide
Marttinen, T.-L. M. (2022) · Journal of Critical Mixed Race Studies · doi:10.5070/c81258341 · Cited by 6
Human leukocyte antigen distribution and genomic ancestry in Brazilian patients with sickle cell disease
Malta, M. C. F. D. S., Rodrigues, P. S., Zuccherato, L. W., de Souza, F. C. B., Domingues, E. M. F. L., de Souza, V. R., Tarazona‐Santos, E., & Martins, M. L. (2017) · HLA · doi:10.1111/tan.13102 · Cited by 6
Genome-wide association studies of viral infections—A short guide to a successful experimental and statistical analysis
Butković, A., & Elena, S. F. (2022) · Frontiers in Systems Biology · doi:10.3389/fsysb.2022.1005758 · Cited by 5
“Another good measure that can be used is admixture mapping, a method that tries to associate an allele with a disease based on ancestry information between different populations (Shriner, 2013).”
Method
The genetic ancestry of African, Latino, and European Americans across the United StatesPreprint
Bryc, K., Durand, E., Macpherson, J. M., Reich, D., & Mountain, J. L. (2014) · bioRxiv · doi:10.1101/009340 · Cited by 7
Genotype-phenotype association study conducted on LARGE-PD reveals novel loci associated with Parkinson’s DiseasePreprint
Leal, T. P., Waldo, E., Duarte-Zambrano, F., Inca‐Martinez, M., Ramchandra, J., Chaparro-Solano, H. M., Anello, A. E., Borda, V., Gouveia, M. H., dos Santos, D. T., et al. (2025) · medRxiv · doi:10.1101/2025.07.18.25331793 · Cited by 5
PRECISION MEDICINE: FROM DIPLOTYPES TO DISPARITIES TOWARDS IMPROVED HEALTH AND THERAPIES
Crawford, D. C., Morgan, A. A., Denny, J. C., Aronow, B. J., & Brenner, S. E. (2017) · Pacific Symposium on Biocomputing (PSB) · doi:10.1142/9789813235533_0036 · Cited by 4
Spotting genome-wide pigmentation variation in a brown trout admixture contextPreprint
Valette, T., Leitwein, M., LASCAUX, J. M., Desmarais, É., Berrebi, P., & Guinand, B. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.07.23.217109 · Cited by 6
Genetic characterization of a captive marmoset ( Callithrix jacchus ) colony using genotype‐by‐sequencing
Cole, S. A., Lyke, M. M., Christensen, C., Newman, D. E., Bagwell, A., Galindo, S., Glenn, J. P., Layne‐Colon, D., Sayers, K., Tardif, S. D., et al. (2024) · American Journal of Primatology · doi:10.1002/ajp.23630 · Cited by 3
Reconstructing the Genomic Diversity of a Widespread Sub-Saharan Bat (Pteropodidae: Eidolon helvum) Using Archival Museum Collections
O'Toole, B., Simmons, N. B., & Hekkala, E. R. (2020) · Acta Chiropterologica · doi:10.3161/15081109acc2020.22.2.001 · Cited by 3
Old vs. new local ancestry inference in HCHS/SOL: a comparative study
Chen, X., Wang, H., Broce, I., Dale, A. M., Yu, B., Zhou, L. Y., Li, X., Argos, M., Daviglus, M. L., Cai, J., et al. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddaf093 · Cited by 2
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de Aquino, M. M., Xu, C. Y., Engchuan, W., Trost, B., Zhou, X., Miwa, B., Salazar, N. B., Iglar, J., Thiruvahindrapuram, B., Wallich, L., et al. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03886-9 · Cited by 2
Simplified detection of genetic background admixture using artificial intelligence
Pauly, R., & Feltus, F. A. (2024) · Clinical Genetics · doi:10.1111/cge.14527 · Cited by 1
Race Differences: A Very Brief Review
Kirkegaard, E. O. W. (2019) · Mankind Quarterly · doi:10.46469/mq.2019.60.2.2 · Cited by 3
Genetic architecture of type 2 diabetes and its shared genetic component with low birth weight in African Americans
Ruiz-Narváez, E. (2021) · Current Opinion in Clinical Nutrition & Metabolic Care · doi:10.1097/mco.0000000000000757 · Cited by 3
Local ancestry inference in heterogeneous populations—Are recent recombination events more relevant?
van Eeden, G., Uren, C., van der Spuy, G. D., Tromp, G. C., & Möller, M. (2021) · Briefings in Bioinformatics · doi:10.1093/bib/bbab300 · Cited by 2
Admixture mapping identifies complex trait associations with local ancestry in the All of Us Research ProgramPreprint
Rivera, W. G. G., Liu, Y., Mirmira, T., Ma, N., Kim, J., Antonio, M. D., Dube, U., Frazer, K. A., & Gymrek, M. (2025) · medRxiv · doi:10.64898/2025.12.29.25343152 · Cited by 2
A comprehensive overview of the biological foundations of ADHD
Folego-Temoteo, I., Lima, Y. C., Grevet, E. H., Vidor, M. V., Tavares, M. E., da Silva, B. S., Bau, C. H. D., & Rovaris, D. L. (2026) · Bioscience Reports · doi:10.1042/bsr20254061 · Cited by 1
“Recognizing this statistical reality is fundamental for a balanced and mature interpretation of biological findings.”
Genetics and Genomics of Preterm Birth
Nadeem, L., Lye, S. J., & Shynlova, O. P. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-813570-9.00015-2 · Cited by 1
Pharmacogenetics of Asthma
Fenech, A. G., Sayers, I., & Portelli, M. A. (2015) · Advances in predictive, preventive and personalised medicine · doi:10.1007/978-3-319-15344-5_9 · Cited by 1
A narrative review of neuro-ophthalmologic disease in African Americans and Hispanics with multiple sclerosis
Tardo, L. M., Salter, A. R., Truong-Le, M., Horton, L. A., Blackburn, K. M., & Sguigna, P. V. (2023) · Therapeutic Advances in Chronic Disease · doi:10.1177/20406223231202645 · Cited by 1
Estudio de la relación de la ancestría genética con el riesgo al cáncer colorrectal en Colombia
Criollo, Á., Bohórquez, M., Lott, P. C., Carracedo, Á., Tomlinson, I. P. M., Carvajal‐Carmona, L. G., & Echeverry, M. (2019) · Revista de la Asociación Colombiana de Ciencias Biológicas · doi:10.47499/revistaaccb.v1i31.183 · Cited by 1
Mito-nuclear effects uncovered in admixed populationsPreprint
Zaidi, A. A., & Makova, K. (2018) · bioRxiv · doi:10.1101/349126 · Cited by 1
Modeling of linkage disequilibrium in whole genome genetic association studies
Johnson, R. (2014) · theses.fr (ABES) · doi:10.70675/077a2830z02f9z4591za4e5z254e19208d13
“Review (Shriner 2013) Review (Thompson 2013) Type Software Used Map Citation !”
Background
Mapeamento por miscigenação em amostra de pacientes brasileiros com insuficiência cardíaca
Cardena, M. M. S. G. (2018) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2018.tde-11092018-134127
Genetics of Scars and Keloids
Hsu, C., Yang, H., & McGrath, J. A. (2019) · Springer eBooks · doi:10.1007/978-981-32-9791-3_4
Discovery through Diversity: Insights into the Genetics of Lung Function in Latino Youth
Jones, T. K., & Christie, J. D. (2020) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.202006-2404ed
“Admixture mapping, a methodology that leverages shared genetic variance and differing allele frequencies among ancestral populations, holds promise for uncovering associations between ancestry at specific genetic loci and disease states (10).”
Background

Authors: Shriner, D.
Affiliations: National Human Genome Research Institute (US)
Corresponding author: Shriner, Daniel
ORCID: Shriner, Daniel
Venue: Current Protocols in Human Genetics
Publisher: Wiley
Published: 2013-01
Volume: 76
Issue: 1
Pages: 1.23.1-1.23.8
ISSN: 1934-8258 (ISSN-L)
1934-8266
DOI: 10.1002/0471142905.hg0123s76
PMC: PMC3556814
OpenAlex: W1588484659
Cited by: 111
References: 24
Citations by year: 2026: 6 · 2025: 7 · 2024: 8 · 2023: 9 · 2022: 11 · 2021: 16 · 2020: 10 · 2019: 13 · 2018: 8 · 2017: 11 · 2016: 2 · 2015: 3 · 2014: 7
FWCI: 2.65
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: Current Protocols in Human Genetics (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health (Z99 HL999999, Z99 MH999999, Z99 HG999999, 1ziahg200362-15, Z01HG200362))
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Keywords: admixture mapping, local ancestry inference, gene mapping, African Americans, Hispanic Americans, linkage analysis, association analysis, admixed populations, genetic variants
MeSH terms: Black or African American, Chromosome Mapping, Hispanic or Latino, Humans, Genetic Linkage, Phenotype, Genome, Human, Quantitative Trait Loci, Black People, White People, Genetic Association Studies

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