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Admixture in Latin America: Geographic Structure, Phenotypic Diversity and Self-Perception of Ancestry Based on 7,342 Individuals

posted on 25.09.2014, 03:58 by Andrés Ruiz-Linares, Kaustubh Adhikari, Victor Acuña-Alonzo, Mirsha Quinto-Sanchez, Claudia Jaramillo, William Arias, Macarena Fuentes, María Pizarro, Paola Everardo, Francisco de Avila, Jorge Gómez-Valdés, Paola León-Mimila, Tábita Hunemeier, Virginia Ramallo, Caio C. Silva de Cerqueira, Mari-Wyn Burley, Esra Konca, Marcelo Zagonel de Oliveira, Mauricio Roberto Veronez, Marta Rubio-Codina, Orazio Attanasio, Sahra Gibbon, Nicolas Ray, Carla Gallo, Giovanni Poletti, Javier Rosique, Lavinia Schuler-Faccini, Francisco M. Salzano, Maria-Cátira Bortolini, Samuel Canizales-Quinteros, Francisco Rothhammer, Gabriel Bedoya, David Balding, Rolando Gonzalez-José

The current genetic makeup of Latin America has been shaped by a history of extensive admixture between Africans, Europeans and Native Americans, a process taking place within the context of extensive geographic and social stratification. We estimated individual ancestry proportions in a sample of 7,342 subjects ascertained in five countries (Brazil, Chile, Colombia, México and Perú). These individuals were also characterized for a range of physical appearance traits and for self-perception of ancestry. The geographic distribution of admixture proportions in this sample reveals extensive population structure, illustrating the continuing impact of demographic history on the genetic diversity of Latin America. Significant ancestry effects were detected for most phenotypes studied. However, ancestry generally explains only a modest proportion of total phenotypic variation. Genetically estimated and self-perceived ancestry correlate significantly, but certain physical attributes have a strong impact on self-perception and bias self-perception of ancestry relative to genetically estimated ancestry.