School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA; PanAmerican Bioinformatics Institute, Cali, Valle del Cauca, Colombia
Andrew B. Conley
PanAmerican Bioinformatics Institute, Cali, Valle del Cauca, Colombia; IHRC-Georgia Tech Applied Bioinformatics Laboratory, Atlanta, GA, USA; National Institute of Minority Health and Health Disparities, National Institutes of Health, Bethesda, MD, USA
Aroon T. Chande
School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA; PanAmerican Bioinformatics Institute, Cali, Valle del Cauca, Colombia; IHRC-Georgia Tech Applied Bioinformatics Laboratory, Atlanta, GA, USA
Lavanya Rishishwar
PanAmerican Bioinformatics Institute, Cali, Valle del Cauca, Colombia; IHRC-Georgia Tech Applied Bioinformatics Laboratory, Atlanta, GA, USA; National Institute of Minority Health and Health Disparities, National Institutes of Health, Bethesda, MD, USA
Shivam Sharma
National Institute of Minority Health and Health Disparities, National Institutes of Health, Bethesda, MD, USA
Leonardo Mariño-Ramírez
PanAmerican Bioinformatics Institute, Cali, Valle del Cauca, Colombia; National Institute of Minority Health and Health Disparities, National Institutes of Health, Bethesda, MD, USA
Gabriela Aguinaga-Romero
Faculty of Medical Sciences, Central University of Ecuador, Quito, Ecuador
Fabricio González-Andrade
Faculty of Medical Sciences, Central University of Ecuador, Quito, Ecuador; Corresponding author
I. King Jordan
School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA; PanAmerican Bioinformatics Institute, Cali, Valle del Cauca, Colombia; IHRC-Georgia Tech Applied Bioinformatics Laboratory, Atlanta, GA, USA; Corresponding author
Summary: We investigated the ancestral origins of four Ecuadorian ethnic groups—Afro-Ecuadorian, Mestizo, Montubio, and the Indigenous Tsáchila—in an effort to gain insight on the relationship between ancestry, culture, and the formation of ethnic identities in Latin America. The observed patterns of genetic ancestry are largely concordant with ethnic identities and historical records of conquest and colonization in Ecuador. Nevertheless, a number of exceptional findings highlight the complex relationship between genetic ancestry and ethnicity in Ecuador. Afro-Ecuadorians show far less African ancestry, and the highest levels of Native American ancestry, seen for any Afro-descendant population in the Americas. Mestizos in Ecuador show high levels of Native American ancestry, with substantially less European ancestry, despite the relatively low Indigenous population in the country. The recently recognized Montubio ethnic group is highly admixed, with substantial contributions from all three continental ancestries. The Tsáchila show two distinct ancestry subgroups, with most individuals showing almost exclusively Native American ancestry and a smaller group showing a Mestizo characteristic pattern. Considered together with historical data and sociological studies, our results indicate the extent to which ancestry and culture interact, often in unexpected ways, to shape ethnic identity in Ecuador.