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Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations

2015; National Academy of Sciences; Volume: 112; Issue: 28 Linguagem: Inglês

10.1073/pnas.1504447112

1091-6490

Fernanda S. G. Kehdy, Mateus H. Gouveia, Moara Machado, Wagner C. S. Magalhães, A.R.V.R. Horimoto, Bernardo Lessa Horta, Rennan G. Moreira, Thiago Peixoto Leal, Marília O. Scliar, Giordano B. Soares‐Souza, Fernanda Rodrigues‐Soares, Gilderlânio Santana de Araújo, Roxana Zamudio, Hanaísa P. Sant Anna, Hadassa Rodrigues Santos, Núbia E. Duarte, Rosemeire Leovigildo Fiaccone, Camila Alexandrina Figueiredo, Thiago Magalhães da Silva, Gustavo Nunes de Oliveira Costa, Sandra Beleza, Douglas E. Berg, Lilia Cabrera, Guilherme Debortoli, Denise Duarte, Silvia Ghirotto, Robert H. Gilman, Vanessa F. Gonçalves, Andrea Rita Marrero, Yara Costa Netto Muniz, Hansi Weißensteiner, Meredith Yeager, Laura C. Rodrigues, Maurício L. Barreto, Maria Fernanda Lima‐Costa, Alexandre C. Pereira, Maíra R. Rodrigues, Eduardo Tarazona‐Santos, Neuza Maria Alcântara‐Neves, Nathalia Matta Araujo, Márcio L.B. Carvalho, Jackson Santos Conceição, Josélia Oliveira Araújo Firmo, Denise P. Gigante, Lindolfo Meira, Thaís Muniz de Queiroz, Guilherme Oliveira, Isabel O. Oliveira, Sérgio Viana Peixoto, Fernando Augusto Proietti, D. C. Rodrigues, Meddly L. Santolalla, Agostino Strina, Camila Zolini,

Animal Genetics and Reproduction

Significance The EPIGEN Brazil Project is the largest Latin-American initiative to study the genomic diversity of admixed populations and its effect on phenotypes. We studied 6,487 Brazilians from three population-based cohorts with different geographic and demographic backgrounds. We identified ancestry components of these populations at a previously unmatched geographic resolution. We broadened our understanding of the African diaspora, the principal destination of which was Brazil, by revealing an African ancestry component that likely derives from the slave trade from Bantu/eastern African populations. In the context of the current debate about how the pattern of deleterious mutations varies between Africans and Europeans, we use whole-genome data to show that continental admixture is the main and complex determinant of the amount of deleterious genotypes in admixed individuals.