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Short communication| Volume 33, P59-65, March 2018

The geographic mosaic of Ecuadorian Y-chromosome ancestry

  • Author Footnotes
    1 Equal contribution.
    U. Toscanini
    Footnotes
    1 Equal contribution.
    Affiliations
    Pricai-Fundación Favaloro, Buenos Aires, Argentina

    Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, and GenPoB Research Group, Instituto de Investigaciones Sanitarias (IDIS), Hospital Clínico Universitario de Santiago, Galicia (SERGAS), Spain
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  • A. Gaviria
    Affiliations
    Laboratorio de Genética Molecular, Centros Médicos Especializados Cruz Roja Ecuatoriana—Cruz Vital, Quito, Ecuador
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  • J. Pardo-Seco
    Affiliations
    Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, and GenPoB Research Group, Instituto de Investigaciones Sanitarias (IDIS), Hospital Clínico Universitario de Santiago, Galicia (SERGAS), Spain

    Translational Pediatrics and Infectious Diseases, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain

    GENVIP Research Group, Instituto de Investigación Sanitaria de Santiago, Galicia, Spain2
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  • A. Gómez-Carballa
    Affiliations
    Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, and GenPoB Research Group, Instituto de Investigaciones Sanitarias (IDIS), Hospital Clínico Universitario de Santiago, Galicia (SERGAS), Spain

    Translational Pediatrics and Infectious Diseases, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain

    GENVIP Research Group, Instituto de Investigación Sanitaria de Santiago, Galicia, Spain2
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  • F. Moscoso
    Affiliations
    Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, and GenPoB Research Group, Instituto de Investigaciones Sanitarias (IDIS), Hospital Clínico Universitario de Santiago, Galicia (SERGAS), Spain

    Laboratorio Biomolecular, Cuenca, Ecuador
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  • M. Vela
    Affiliations
    Laboratorio de Genética Molecular, Centros Médicos Especializados Cruz Roja Ecuatoriana—Cruz Vital, Quito, Ecuador
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  • S. Cobos
    Affiliations
    Laboratorio de Genética Molecular, Centros Médicos Especializados Cruz Roja Ecuatoriana—Cruz Vital, Quito, Ecuador
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  • A. Lupero
    Affiliations
    Laboratorio de Genética Molecular, Centros Médicos Especializados Cruz Roja Ecuatoriana—Cruz Vital, Quito, Ecuador
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  • A.K. Zambrano
    Affiliations
    Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Quito, 1701129, Ecuador
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  • F. Martinón-Torres
    Affiliations
    Translational Pediatrics and Infectious Diseases, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain

    GENVIP Research Group, Instituto de Investigación Sanitaria de Santiago, Galicia, Spain2
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  • A. Carabajo-Marcillo
    Affiliations
    Laboratorio Biomolecular, Cuenca, Ecuador
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  • R. Yunga-León
    Affiliations
    Laboratorio Biomolecular, Cuenca, Ecuador
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  • N. Ugalde-Noritz
    Affiliations
    Laboratorio Biomolecular, Cuenca, Ecuador
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  • A. Ordoñez-Ugalde
    Affiliations
    Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, and GenPoB Research Group, Instituto de Investigaciones Sanitarias (IDIS), Hospital Clínico Universitario de Santiago, Galicia (SERGAS), Spain

    Laboratorio Biomolecular, Cuenca, Ecuador

    Neurogenetics Group, FPGMX-IDIS, Santiago de Compostela, Spain
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  • Author Footnotes
    1 Equal contribution.
    A. Salas
    Correspondence
    Corresponding author.
    Footnotes
    1 Equal contribution.
    Affiliations
    Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, and GenPoB Research Group, Instituto de Investigaciones Sanitarias (IDIS), Hospital Clínico Universitario de Santiago, Galicia (SERGAS), Spain
    Search for articles by this author
  • Author Footnotes
    1 Equal contribution.
    2 www.genvip.org.
Published:November 22, 2017DOI:https://doi.org/10.1016/j.fsigen.2017.11.011

      Highlights

      • Y-chromosome variation is strongly stratified across the main ecological regions of Ecuador.
      • Genetic ancestry patterns fit well with expectations according to census data.
      • European ancestry is particularly high in Ecuadorian Y-chromosomes (61%).
      • The main geographic pole for Afro-Ecuadorian ancestry is in the Northwest.

      Abstract

      Ecuadorians originated from a complex mixture of Native American indigenous people with Europeans and Africans. We analyzed Y-chromosome STRs (Y-STRs) in a sample of 415 Ecuadorians (145 using the AmpFlSTR® Yfiler™ system [Life Technologies, USA] and 270 using the PowerPlex®Y23 system [Promega Corp., USA]; hereafter Yfiler and PPY23, respectively) representing three main ecological continental regions of the country, namely Amazon rainforest, Andes, and Pacific coast. Diversity values are high in the three regions, and the PPY23 exhibits higher discrimination power than the Yfiler set. While summary statistics, AMOVA, and RST distances show low to moderate levels of population stratification, inferred ancestry derived from Y-STRs reveal clear patterns of geographic variation. The major ancestry in Ecuadorian males is European (61%), followed by an important Native American component (34%); whereas the African ancestry (5%) is mainly concentrated in the Northwest corner of the country. We conclude that classical procedures for measuring population stratification do not have the desirable sensitivity. Statistical inference of ancestry from Y-STRS is a satisfactory alternative for revealing patterns of spatial variation that would pass unnoticed when using popular statistical summary indices.

      Keywords

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