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Admixture in Latin America: Geographic Structure, Phenotypic Diversity and Self-Perception of Ancestry Based on 7,342 Individuals
Open accessAbstract
The current genetic makeup of Latin America has been shaped by a history of extensive admixture between Africans, Europeans and Native Americans, a process taking place within the context of extensive geographic and social stratification. We estimated individual ancestry proportions in a sample of 7,342 subjects ascertained in five countries (Brazil, Chile, Colombia, México and Perú). These individuals were also characterized for a range of physical appearance traits and for self-perception of ancestry. The geographic distribution of admixture proportions in this sample reveals extensive population structure, illustrating the continuing impact of demographic history on the genetic diversity of Latin America. Significant ancestry effects were detected for most phenotypes studied. However, ancestry generally explains only a modest proportion of total phenotypic variation. Genetically estimated and self-perceived ancestry correlate significantly, but certain physical attributes have a strong impact on self-perception and bias self-perception of ancestry relative to genetically estimated ancestry.
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“They assessed genetic ancestry with 15,000 SNPs, making their index highly-reliable [56].”
From Global Ancestry and Cognitive Ability (2019) · cites this paper as [56]
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“More recently, two studies of continental ancestry, one using 30 ancestry-informative SNPs [38] and another employing GeneChip Arrays [39], have reported that the current Chilean population has about 43% Amerindian, 55% European, and 2% African ancestry on average [38].”
Pharmacogenomics and genetic ancestry: an opportunity to transform clinical practice in Colombia
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BackgroundResultCambios en la presión arterial de acuerdo con la estatura en adultos mexicanos
Pérez-Sastre, M. A., & Ortiz-Hernández, L. (2021) · Revista de Saúde Pública · doi:10.11606/s1518-8787.20210550032531 · Cited by 2
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Self-citationGenetic ancestry influences body shape and obesity risk in Latin American populations
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Self-citationGenetic ancestry proportion influences risk of adverse events from tuberculosis treatment in Brazil
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Origen étnico y ancestría genética, ¿qué lugar tienen en la práctica médica en Argentina?
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ResultInfluentialHLA molecular study of patients in a public kidney transplant program in Guatemala
Escobar-Castro, K., Hernández-Zaragoza, D. I., Santizo, A., del Toro‐Arreola, S., Hernández, E., & Manuel Toledo, S. (2022) · Human Immunology · doi:10.1016/j.humimm.2022.08.003 · Cited by 2
Distribution of Pharmacogene Allele and Phenotype Frequencies in Brazilian Psychiatric Patients
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Effect of Protected Areas on Human Populations in the Context of Colombian Armed Conflict, 2005–2018
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“The individual genetic ancestry proportion pattern here observed agrees with the admixture pattern currently accepted by diverse sources of evidence (Adhikari et al. , 2016; Wang et al. , 2008; Ruiz-Linares et al. , 2014; Salzano and Sans, 2014).”
Exploring the Impact of Mitonuclear Discordance on Disease in Latin American Admixed Populations
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Guerra, M. V. D. F., de Souza, J. L., da Silva, L. S., Santo, J. D. E., de Mesquita, T. G. R., Queiroz, K. L. G. D., Silva, G., Ogusku, M. M., de Souza, M. L. G., Neto, J. P. D. M., et al. (2025) · PLoS neglected tropical diseases · doi:10.1371/journal.pntd.0013318 · Cited by 1
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Graciano, N., López, L., Rodríguez, C. A., Montoya, K., & Cortés, J. (2025) · Breast Cancer Research and Treatment · doi:10.1007/s10549-025-07814-3 · Cited by 1
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Expert Panel Guidelines for Hybrid CaHA ‐ CMC / CPM ‐ HA Fillers in the Mexican Population
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“Previous studies have evaluated the association of self-perceived ethno-racial categories with autosomal and uniparental ancestries in urban populations [81–83].”
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“…shortcomings, Woolcott et al. proposed the Relative Fat Mass (RFM) index in 2018, a simple sex-specific equation based on waist circumference and height that provides an estimate of body fat percentage and demonstrated better agreement with dual-energy X-ray absorptiometry (DXA) than BMI [8] .”
InfluentialGazcón-Rivas, C. P., Roa-Bruzón, I. Y., Almira, L. F. D., Valdez-Gaxiola, C. A., Dumois‐Petersen, S., Eduardo Figuera, L., Ramos, A. Q., Gurrola‐Díaz, C. M., Ortuño‐Sahagún, D., Valle, Y., et al. (2026) · Medical Sciences · doi:10.3390/medsci14020228 · Cited by 1
“While some variants differed from those in European, African, or Asian populations, frequencies were generally comparable to those reported for other Latin American groups, consistent with the well-documented admixture patterns in the region [18,19].”
Screening for Hereditary Cancer in Latin America
Álvarez, K., Álvarez, C., Dominguez–Valentin, M., & Carvallo, P. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-811531-2.00003-5 · Cited by 1
Colonialism, ethnogenesis, and biogeographic ancestry in the US Southwest
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Gracia, J. R., Granda, E. A. M., & Pineda, A. F. G. (2023) · Springer eBooks · doi:10.1007/978-3-031-27848-8_6 · Cited by 1
Differences in Body Weight According to Skin Color and Sex in Mexican Adults
Ortiz-Hernández, L., & Miranda-Quezada, I. P. (2023) · Journal of Racial and Ethnic Health Disparities · doi:10.1007/s40615-023-01829-6 · Cited by 1
“Furthermore, in Mexico, skin color is a poor indicator of continental ancestry assessed with genetic markers [37].”
Executive function and decision-making in Colombian patients with paranoid schizophrenia
Acosta-López, J. E., Cervantes-Henríquez, M. L., Téllez-Bustillo, S., Ahmad, M., Sánchez-Rojas, M., Paredes-Manrique, C., & Zegarra-Valdivia, J. A. (2024) · F1000Research · doi:10.12688/f1000research.143978.1 · Cited by 1
“55 This work is of particular interest because Colombia is an ethnically diverse country presenting the highest levels in Latin America 56,57 of mixtures by three groups (Indigenous/Amerindians, Spaniards, and Africans).”
García‐Vilchis, B., Román-López, T. V., Ramírez-González, D., López-Camaño, X. J., Murillo-Lechuga, V., Díaz-Téllez, X., Sánchez-Moncada, C. I., Espinosa-Méndez, I. M., Zenteno, D., Espinosa-Valdés, Z., et al. (2024) · Twin Research and Human Genetics · doi:10.1017/thg.2024.18 · Cited by 1
“…estimated to range from 56% to 90% for indigenous ancestry, from 10% to 38% for European ancestry, and around 5% and 2% for African and Asian ancestry respectively (Bodner et al., 2021; De Oliveira et al., 2023; Juárez-Cedillo et al., 2008; Martinez-Fierro et al., 2009; Ruiz-Linares et al., 2014).”
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Self-citation
Metadata
- Authors
- Ruiz-Linares, A., Adhikari, K., Acuña-Alonzo, V., Quinto-Sanchez, M., Jaramillo, C., Arias, W., Fuentes, M., Pizarro, M., Everardo, P., de Avila, F., Gómez-Valdés, J., León-Mimila, P., Hunemeier, T., Ramallo, V., Silva de Cerqueira, C. C., Burley, M.-W., Konca, E., de Oliveira, M. Z., Veronez, M. R., Rubio-Codina, M., Attanasio, O., Gibbon, S., Ray, N., Gallo, C., Poletti, G., Rosique, J., Schuler-Faccini, L., Salzano, F. M., Bortolini, M.-C., Canizales-Quinteros, S., Rothhammer, F., Bedoya, G., Balding, D., & Gonzalez-José, R.
- Affiliations
- University College London (GB)
- Universidad de Antioquia (CO)
- University of Tarapacá (CL)
- National Institute of Anthropology and History (MX)
- Universidade Federal do Rio Grande do Sul (BR)
- Institute for Fiscal Studies (GB)
- University of Geneva (CH)
- Universidad Peruana Cayetano Heredia (PE)
- ORCID
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2014-09-25
- Volume
- 10
- Issue
- 9
- Pages
- e1004572
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC4177621
- OpenAlex
- W2112602049
- Cited by
- 442
- References
- 58
- Citations by year
- 2026: 24 · 2025: 39 · 2024: 25 · 2023: 40 · 2022: 27 · 2021: 45 · 2020: 41 · 2019: 46 · 2018: 41 · 2017: 38 · 2016: 45 · 2015: 28 · 2014: 2
- FWCI
- 24.74
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Archive ouverte UNIGE (University of Geneva) (publishedVersion, other-oa)
- Open Research Online (The Open University) (acceptedVersion)
- Minerva Access (University of Melbourne) (submittedVersion, cc-by)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, cc-by-nc-sa)
- Americanae (AECID Library) (submittedVersion, cc-by)
- Institutional Repository University of Antioquia (University of Antioquia) (submittedVersion, cc-by-nc-nd)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- UCL Discovery (University College London) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Universidad de Chile (submittedVersion, cc-by-nc-nd)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, cc-by)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Greater South Information System
- Funders
- Leverhulme Trust (F/07 134/DF)
- Biotechnology and Biological Sciences Research Council (BB/I021213/1)
- Economic and Social Research Council (ES/H021221/1)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Social Sciences › Anthropology › Race, Genetics, and Society
- Keywords
- admixture, genetic ancestry estimation, population structure, phenotypic diversity, demographic history, genetic diversity, self-perception bias
- MeSH terms
- Ethnicity, Biological Evolution, Female, Genetics, Population, Geography, Humans, Latin America, Male, Phenotype, Self Concept, Genetic Variation, Quantitative Trait, Heritable
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