Chocó, Colombia: a hotspot of human biodiversity.
OBJECTIVE
Chocó is a state located on the Pacific coast of Colombia that has a majority Afro-Colombian population. The objective of this study was to characterize the genetic ancestry, admixture and diversity of the population of Chocó, Colombia.


METHODS
Genetic variation was characterized for a sample of 101 donors (61 female and 40 male) from the state of Chocó. Genotypes were determined for each individual via the characterization of 610,545 single nucleotide polymorphisms genome-wide. Haplotypes for the uniparental mitochondrial DNA (female) and Y-DNA (male) chromosomes were also determined. These data were used for comparative analyses with a number of worldwide populations, including putative ancestral populations from Africa, the Americas and Europe, along with several admixed American populations.


RESULTS
The population of Chocó has predominantly African genetic ancestry (75.8%) with approximately equal parts European (13.4%) and Native American (11.1%) ancestry. Chocó shows relatively high levels of three-way genetic admixture, and far higher levels of Native American ancestry, compared to other New World African populations from the Caribbean and the United States. There is a striking pattern of sex-specific ancestry in Chocó, with Native American admixture along the female lineage and European admixture along the male lineage. The population of Chocó is also characterized by relatively high levels of overall genetic diversity compared to both putative ancestral populations and other admixed American populations.


CONCLUSIONS
These results suggest a unique genetic heritage for the population of Chocó and underscore the profound human genetic diversity that can be found in the region.
Centro de Investigación en Biotecnología y Recursos Fitogenéticos. Centro de Investigaciones en Biodiversidad y Hábitat, Universidad Tecnológica del Chocó, Quibdó, Chocó, Colombia; PanAmerican Bioinformatics Institute, Cali, Valle del Cauca, Colombia.
Miguel A
MA
Medina-Rivas
IHRC-Georgia Tech Applied Bioinformatics Laboratory, Atlanta, Georgia, USA.
Emily T
ET
Norris
IHRC-Georgia Tech Applied Bioinformatics Laboratory, Atlanta, Georgia, USA; School of Biology, Georgia Institute of Technology, Atlanta, Georgia, USA.
Lavanya
L
Rishishwar
IHRC-Georgia Tech Applied Bioinformatics Laboratory, Atlanta, Georgia, USA.
Andrew B
AB
Conley
Biomedical Research Institute, Universidad Libre, Cali, Valle del Cauca, Colombia.
Camila
C
Medrano-Trochez
PanAmerican Bioinformatics Institute, Cali, Valle del Cauca, Colombia; Biomedical Research Institute, Universidad Libre, Cali, Valle del Cauca, Colombia.
Augusto
A
Valderrama-Aguirre
School of Biology, Georgia Institute of Technology, Atlanta, Georgia, USA.
Fredrik O
FO
Vannberg
PanAmerican Bioinformatics Institute, Cali, Valle del Cauca, Colombia; National Center for Biotechnology Information, National Institutes of Health, Bethesda, Maryland, USA; BIOS Centro de Bioinformática y Biología Computacional, Manizales, Caldas, Colombia.
Leonardo
L
Mariño-Ramírez
PanAmerican Bioinformatics Institute, Cali, Valle del Cauca, Colombia; School of Biology, Georgia Institute of Technology, Atlanta, Georgia, USA; BIOS Centro de Bioinformática y Biología Computacional, Manizales, Caldas, Colombia.
I King
IK
Jordan
Admixture; Afro-Colombian; Colombia; Genetic ancestry; Genetic diversity; Human genome
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