Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 112, Issue 28, Pages 8696-8701Publisher
NATL ACAD SCIENCES
DOI: 10.1073/pnas.1504447112
Keywords
Latin America; population genetics; Salvador SCAALA; Bambul Cohort Study of Ageing; Pelotas Birth Cohort Study
Categories
Funding
- Brazilian Ministry of Health (Department of Science and Technology from the Secretaria de Ciencia, Tecnologia e Insumos Estrategicos) through Financiadora de Estudos e Projetos
- Brazilian Ministry of Education (CAPES Agency)
- Brazilian National Research Council (CNPq)
- Pro-Reitoria de Pesquisa from the Universidade Federal de Minas Gerais
- Minas Gerais State Agency for Support of Research (FAPEMIG)
- MRC [MR/K007467/1] Funding Source: UKRI
- Medical Research Council [MR/K007467/1] Funding Source: researchfish
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While South Americans are underrepresented in human genomicdiversity studies, Brazil has been a classical model for population genetics studies on admixture. We present the results of the EPIGEN Brazil Initiative, the most comprehensive up-to-date genomic analysis of any Latin-American population. A population-based genome-wide analysis of 6,487 individuals was performed in the context of worldwide genomic diversity to elucidate how ancestry, kinship, and inbreeding interact in three populations with different histories from the Northeast (African ancestry: 50%), Southeast, and South (both with European ancestry >70%) of Brazil. We showed that ancestry-positive assortative mating permeated Brazilian history. We traced European ancestry in the Southeast/South to a wider European/Middle Eastern region with respect to the Northeast, where ancestry seems restricted to Iberia. By developing an approximate Bayesian computation framework, we infer more recent European immigration to the Southeast/South than to the Northeast. Also, the observed low Native-American ancestry (6-8%) was mostly introduced in different regions of Brazil soon after the European Conquest. We broadened our understanding of the African diaspora, the major destination of which was Brazil, by revealing that Brazilians display two within-Africa ancestry components: one associated with non-Bantu/western Africans (more evident in the Northeast and African Americans) and one associated with Bantu/eastern Africans (more present in the Southeast/South). Furthermore, the whole-genome analysis of 30 individuals (42-fold deep coverage) shows that continental admixture rather than local post-Columbian history is the main and complex determinant of the individual amount of deleterious genotypes.
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