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History Shaped the Geographic Distribution of Genomic Admixture on the Island of Puerto Rico
Open accessAbstract
Contemporary genetic variation among Latin Americans human groups reflects population migrations shaped by complex historical, social and economic factors. Consequently, admixture patterns may vary by geographic regions ranging from countries to neighborhoods. We examined the geographic variation of admixture across the island of Puerto Rico and the degree to which it could be explained by historic and social events. We analyzed a census-based sample of 642 Puerto Rican individuals that were genotyped for 93 ancestry informative markers (AIMs) to estimate African, European and Native American ancestry. Socioeconomic status (SES) data and geographic location were obtained for each individual. There was significant geographic variation of ancestry across the island. In particular, African ancestry demonstrated a decreasing East to West gradient that was partially explained by historical factors linked to the colonial sugar plantation system. SES also demonstrated a parallel decreasing cline from East to West. However, at a local level, SES and African ancestry were negatively correlated. European ancestry was strongly negatively correlated with African ancestry and therefore showed patterns complementary to African ancestry. By contrast, Native American ancestry showed little variation across the island and across individuals and appears to have played little social role historically. The observed geographic distributions of SES and genetic variation relate to historical social events and mating patterns, and have substantial implications for the design of studies in the recently admixed Puerto Rican population. More generally, our results demonstrate the importance of incorporating social and geographic data with genetics when studying contemporary admixed populations.
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![Figure 2 Goodness of fit of the regression model of historic variables on African ancestry. Local R2 values were calculated using a geographically weighted regression (GWR) model [48] and interpolation plots showed geographical variation in the accuracy of the regression model.](/paper-figures/1634f6399247455c8ae5147bd76e5b86/history-shaped-the-geographic-distribution-of-genomic-admixture-on-the-island-of-figure-2.jpg)

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“Further stratification of individuals by their self-reported population affiliation (e.g., “Mexican,” “Puerto Rican,” or “Dominican”) reveals a diversity in genetic ancestry, consistent with previous work studying these populations (see Figure S5 and Table S5).10,20,24,25,68,69”
From The genetic ancestry of African Americans, Latinos, and European Americans across the United States (2015) · cites this paper as [68]
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Metadata
- Authors
- Via, M., Gignoux, C. R., Roth, L. A., Fejerman, L., Galanter, J., Choudhry, S., Toro-Labrador, G., Viera-Vera, J., Oleksyk, T. K., Beckman, K., Ziv, E., Risch, N., Burchard, E. G., & Martínez-Cruzado, J. C.
- Affiliations
- University of California, San Francisco (US)
- University of Minnesota (US)
- Kaiser Permanente (US)
- Corresponding author
- Burchard, Esteban González
- ORCID
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2011-01-31
- Volume
- 6
- Issue
- 1
- Pages
- e16513
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC3031579
- OpenAlex
- W2055697761
- Cited by
- 105
- References
- 48
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 5 · 2023: 8 · 2022: 5 · 2021: 4 · 2020: 6 · 2019: 10 · 2018: 5 · 2017: 10 · 2016: 5 · 2015: 4 · 2014: 11 · 2013: 10 · 2012: 9
- FWCI
- 6.78
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona) (publishedVersion, cc-by)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- RECERCAT (Consorci de Serveis Universitaris de Catalunya) (submittedVersion, cc-by)
- Funders
- American Thoracic Society
- Tobacco-Related Disease Research Program
- Flight Attendant Medical Research Institute
- National Institutes of Health (ES015794, AI077439)
- University of California, San Francisco
- National Heart, Lung, and Blood Institute (R01HL088133, HL078885, HL088133, R01HL078885)
- National Institute of General Medical Sciences (T32GM007546)
- National Institute of Allergy and Infectious Diseases (U19AI077439)
- National Institute of Environmental Health Sciences (R01ES015794, ES015794)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Social Sciences › Anthropology › Race, Genetics, and Society
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- genetic admixture, Puerto Rican population, African ancestry, European ancestry, Native American ancestry, socioeconomic status, ancestry informative markers, admixed populations
- MeSH terms
- Genetics, Population, Geography, Humans, Puerto Rico, Social Behavior, Genome, Human, Racial Groups
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