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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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![Figure 3 Vertical histograms (pyramid plots) showing the distribution of genetic ancestry for each of the five self-perceived ancestry categories. As reference, (A) shows the theoretical case of agreement between self-perceived and genetically estimated ancestry. For this plot random values were drawn from a beta distribution such that, for each self-perception band, the median ancestry lies at the centre of a 0.2 interval containing 75% of the simulated ancestry values. The number of simulated values was fixed at our sample size. Panels (B), (C) and (D) show respectively, the observed distributions for European, Native American and African ancestries. The red diagonal line indicates the midpoint, on the genetic ancestry scale, of each self-perceived ancestry category. Distributions are coded in three shades of orange: the darkest shade denotes the central quartiles (the median shown as a brown line), the medium-shade indicates the 5%–95% range, and the lightest shade refers to samples outside this range. For European ancestry, self-perception tends to underestimate genetic ancestry (the distributions are mostly above the diagonal). By contrast, self-perception tends to overestimate African ancestry (the distributions are mostly below the diagonal). At increasing levels of Native American genetic ancestry self-perception first underestimates then overestimates genetic ancestry (the distributions are on both sides of the diagonal). Simulations and plots were carried out using MATLAB [61].](/paper-figures/9e4fab885a5741b2a42e72bcb667fcd8/admixture-in-latin-america-geographic-structure-phenotypic-diversity-and-self-figure-3.jpg)
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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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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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