Admixture dynamics in Hispanics: A shift in the nuclear genetic ancestry of a South American population isolate
Open accessAbstract
Although it is well established that Hispanics generally have a mixed Native American, African, and European ancestry, the dynamics of admixture at the foundation of Hispanic populations is heterogeneous and poorly documented. Genetic analyses are potentially very informative for probing the early demographic history of these populations. Here we evaluate the genetic structure and admixture dynamics of a province in northwest Colombia (Antioquia), which prior analyses indicate was founded mostly by Spanish men and native women. We examined surname, Y chromosome, and mtDNA diversity in a geographically structured sample of the region and obtained admixture estimates with highly informative autosomal and X chromosome markers. We found evidence of reduced surname diversity and support for the introduction of several common surnames by single founders, consistent with the isolation of Antioquia after the colonial period. Y chromosome and mtDNA data indicate little population substructure among founder Antioquian municipalities. Interestingly, despite a nearly complete Native American mtDNA background, Antioquia has a markedly predominant European ancestry at the autosomal and X chromosome level, which suggests that, after foundation, continuing admixture with Spanish men (but not with native women) increased the European nuclear ancestry of Antioquia. This scenario is consistent with historical information and with results from population genetics theory.
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The small number of people carrying both APOE3Ch and PSEN1E280A, plus the homogeneity of this genetic isolate, increase uncertainty around the differences in onset ages.
“Limitations of this study arise from the relatively small number of persons who have both the APOE3Ch and PSEN1E280A variants, as well as the homogeneity of the population belonging to a genetic isolate.19 These limitations increase uncertainty around differences in the point estimates for the ages at the onset of mild cognitive impairment and dementia.”
From <i>APOE3</i> Christchurch Heterozygosity and Autosomal Dominant Alzheimer’s Disease (2024) · cites this paper as [19]
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References 50 · Cited by 264
- Authors
- Bedoya, G., Montoya, P., García, J., Soto, I., Bourgeois, S., Carvajal, L., Labuda, D., Alvarez, V., Ospina, J., Hedrick, P. W., & Ruiz-Linares, A.
- Affiliations
- Laboratorio de Genética Molecular and Departamentos de
- Universidad de Antioquia (CO)
- Psiquiatria, Universidad de Antioquia, Apartado Aéreo 1226, Medellín, Colombia;
- Université de Montreal, Montreal, QC, Canada H3C 3J7;
- The Galton Laboratory, Department of Biology, University College London, London NW1 2HE, United Kingdom; and
- Université de Montréal (CA)
- Arizona State University (US)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2006-05-09
- Volume
- 103
- Issue
- 19
- Pages
- 7234-7239
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2035786794
- Cited by
- 264
- References
- 50
- Citations by year
- 2026: 5 · 2025: 6 · 2024: 7 · 2023: 7 · 2022: 7 · 2021: 4 · 2020: 20 · 2019: 9 · 2018: 12 · 2017: 11 · 2016: 8 · 2015: 35 · 2014: 22 · 2013: 13 · 2012: 14
- FWCI
- 9.30
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- cc-by-nc-nd
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed (publishedVersion)
- Institutional Repository University of Antioquia (University of Antioquia) (submittedVersion, cc-by-nc-nd)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- National Alliance for Research on Schizophrenia and Depression
- Wellcome Trust (086052)
- National Institutes of Health
- Canadian Institutes of Health Research
- National Institute of Neurological Disorders and Stroke (R01NS043538)
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Keywords
- Hispanic population, Antioquia, European ancestry, Native American ancestry, African ancestry, founder effect, Y chromosome, mitochondrial DNA, X chromosome, autosomal markers, population structure, colonial settlement
- MeSH terms
- Cell Nucleus, Colombia, DNA, Mitochondrial, Female, Haplotypes, Hispanic or Latino, Humans, Male, Names, Pedigree, Time Factors, Microsatellite Repeats, Chromosomes, Human, X, Chromosomes, Human, Y
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