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Cited by 182Forensic and Genetic ResearchGenetic diversity and population structureGenetic Associations and Epidemiology

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Genetic demography of Antioquia (Colombia) and the Central Valley of Costa Rica

Carvajal-Carmona, Luis G., Ophoff, Roel, Service, Susan, Hartiala, Jaana, Molina, Julio, Leon, Pedro, Ospina, Jorge, Bedoya, Gabriel, Freimer, Nelson, Ruiz-Linares, Andrés·2003·Human Genetics
DOI 10.1007/s00439-002-0899-8
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Abstract

We report a comparative genetic characterization of two population isolates with parallel demographic histories: the Central Valley of Costa Rica (CVCR) and Antioquia (in northwest Colombia). The analysis of mtDNA, Y-chromosome and autosomal polymorphisms shows that Antioquia and the CVCR are genetically very similar, indicating that closely related parental populations founded these two isolates. In both populations, the male ancestry is predominantly European, whereas the female ancestry is mostly Amerind. In agreement with their isolation, the Amerindian mtDNA diversity of Antioquia and the CVCR is typical of ethnically-defined native populations and is markedly lower than in other Latin American populations. A comparison of linkage disequilibrium (LD) at 18 marker pairs in Antioquia and the CVCR shows that markers in LD in both populations are located at short genetic distances (<approximately 1 cM), whereas markers separated by greater distances are in LD only in the CVCR. This difference probably reflects stochastic variation of LD at the limited number of genome regions compared. The genetic similarity of the populations from Antioquia and the CVCR together with differences in LD between them should be exploitable for the identification and fine mapping of shared disease-related gene variants.

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  • Latinos across the Americas have differing proportions of Native American, African, and European genetic ancestry, shaped by local historical interactions with migrants brought by the slave trade, European settlement, and indigenous Native American populations.

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    From The genetic ancestry of African Americans, Latinos, and European Americans across the United States (2015) · cites this paper as [18]

  • Consistent with previous studies, Latinos have 13% less European ancestry on the X chromosome than genome-wide, showing proportionally greater European ancestry contributions from males.

    “Consistent with previous studies that show a sex bias in admixture in Latino populations,12–18 we estimate 13% less European ancestry on the X chromosome than genome-wide (Table 1), showing proportionally greater European ancestry contributions from males.”

    From The genetic ancestry of African Americans, Latinos, and European Americans across the United States (2015) · cites this paper as [18]

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Metadata

Authors
Carvajal-Carmona, L. G., Ophoff, R., Service, S., Hartiala, J., Molina, J., Leon, P., Ospina, J., Bedoya, G., Freimer, N., & Ruiz-Linares, A.
Affiliations
  • University of California, Los Angeles (US)
  • Universidad de Costa Rica (CR)
  • Universidad de Antioquia (CO)
ORCID
Venue
Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2003-02-25
Volume
112
Issue
5-6
Pages
534-541
ISSN
  • 0018-7348 (ISSN-L)
  • 0340-6717
  • 1432-1203
DOI
10.1007/s00439-002-0899-8
OpenAlex
W1502735596
Cited by
182
References
2
Citations by year
2026: 3 · 2025: 4 · 2024: 1 · 2023: 6 · 2022: 4 · 2021: 5 · 2020: 16 · 2019: 18 · 2018: 5 · 2017: 6 · 2016: 7 · 2015: 6 · 2014: 19 · 2013: 6 · 2012: 13
FWCI
5.08
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Human Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • UCL Discovery (University College London) (submittedVersion)
Funders
  • National Alliance for Research on Schizophrenia and Depression
  • Wellcome Trust
  • National Institutes of Health
  • National Institute of Mental Health (K02MH001375, R01MH049499)
  • National Institute of Neurological Disorders and Stroke (R01NS037484)
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 › Genetic Associations and Epidemiology
Keywords
genetic demography, population structure, mitochondrial DNA, Y chromosome, linkage disequilibrium, Native American ancestry, European ancestry, founder populations, population isolation, disease gene mapping, Antioquia, Central Valley of Costa Rica
MeSH terms
Colombia, Costa Rica, Demography, Female, Genetics, Population, Humans, Indians, North American, Male, Genetic Variation, Linkage Disequilibrium

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