title: Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations.
abstract: While South Americans are underrepresented in human genomic diversity 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.
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil;
authors.forename: Fernanda S G
authors.initials: FS
authors.lastname: Kehdy
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil;
authors.forename: Mateus H
authors.initials: MH
authors.lastname: Gouveia
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil;
authors.forename: Moara
authors.initials: M
authors.lastname: Machado
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil;
authors.forename: Wagner C S
authors.initials: WC
authors.lastname: Magalhães
authors.affiliation: Instituto do Coração, Universidade de São Paulo, 05403-900, São Paulo, Sao Paulo, Brazil;
authors.forename: Andrea R
authors.initials: AR
authors.lastname: Horimoto
authors.affiliation: Programa de Pós-Graduação em Epidemiologia, Universidade Federal de Pelotas, 464, 96001-970 Pelotas, Rio Grande do Sul, Brazil;
authors.forename: Bernardo L
authors.initials: BL
authors.lastname: Horta
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil;
authors.forename: Rennan G
authors.initials: RG
authors.lastname: Moreira
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil;
authors.forename: Thiago P
authors.initials: TP
authors.lastname: Leal
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil;
authors.forename: Marilia O
authors.initials: MO
authors.lastname: Scliar
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil;
authors.forename: Giordano B
authors.initials: GB
authors.lastname: Soares-Souza
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil;
authors.forename: Fernanda
authors.initials: F
authors.lastname: Rodrigues-Soares
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil;
authors.forename: Gilderlanio S
authors.initials: GS
authors.lastname: Araújo
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil;
authors.forename: Roxana
authors.initials: R
authors.lastname: Zamudio
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil;
authors.forename: Hanaisa P
authors.initials: HP
authors.lastname: Sant Anna
authors.affiliation: Instituto do Coração, Universidade de São Paulo, 05403-900, São Paulo, Sao Paulo, Brazil;
authors.forename: Hadassa C
authors.initials: HC
authors.lastname: Santos
authors.affiliation: Instituto do Coração, Universidade de São Paulo, 05403-900, São Paulo, Sao Paulo, Brazil;
authors.forename: Nubia E
authors.initials: NE
authors.lastname: Duarte
authors.affiliation: Departamento de Estatística, Instituto de Matemática, Universidade Federal da Bahia, 40170-110, Salvador, Bahia, Brazil;
authors.forename: Rosemeire L
authors.initials: RL
authors.lastname: Fiaccone
authors.affiliation: Departamento de Ciências da Biointeração, Instituto de Ciências da Saúde, Universidade Federal da Bahia, 40110-100, Salvador, Bahia, Brazil;
authors.forename: Camila A
authors.initials: CA
authors.lastname: Figueiredo
authors.affiliation: Instituto de Saúde Coletiva, Universidade Federal da Bahia, 40110-040, Salvador, Bahia, Brazil;
authors.forename: Thiago M
authors.initials: TM
authors.lastname: Silva
authors.affiliation: Instituto de Saúde Coletiva, Universidade Federal da Bahia, 40110-040, Salvador, Bahia, Brazil;
authors.forename: Gustavo N O
authors.initials: GN
authors.lastname: Costa
authors.affiliation: Department of Genetics, University of Leicester, LE1 7RH, Leicester, United Kingdom;
authors.forename: Sandra
authors.initials: S
authors.lastname: Beleza
authors.affiliation: Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, MO 63110; Department of Medicine, University of California, San Diego, CA 92093;
authors.forename: Douglas E
authors.initials: DE
authors.lastname: Berg
authors.affiliation: Biomedical Research Unit, Asociación Benéfica Proyectos en Informática, Salud, Medicina y Agricultura (AB PRISMA), 170070, Lima, Peru;
authors.forename: Lilia
authors.initials: L
authors.lastname: Cabrera
authors.affiliation: Departamento de Biologia Celular, Embriologia e Genética, Universidade Federal de Santa Catarina, 88040-900, Florianópolis, Santa Catarina, Brazil;
authors.forename: Guilherme
authors.initials: G
authors.lastname: Debortoli
authors.affiliation: Departamento de Estatística, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil;
authors.forename: Denise
authors.initials: D
authors.lastname: Duarte
authors.affiliation: Dipartimento di Scienze della Vita e Biotecnologie, Università di Ferrara, 44121 Ferrara, Italy;
authors.forename: Silvia
authors.initials: S
authors.lastname: Ghirotto
authors.affiliation: Bloomberg School of Public Health, International Health, Johns Hopkins University, Baltimore, MD 21205; Laboratorio de Investigación de Enfermedades Infecciosas, Universidade Peruana Cayetano Heredia, 15102, Lima, Peru;
authors.forename: Robert H
authors.initials: RH
authors.lastname: Gilman
authors.affiliation: Department of Psychiatry and Neuroscience Section, Center for Addiction and Mental Health, University of Toronto, Toronto, ON, Canada M5T 1R8;
authors.forename: Vanessa F
authors.initials: VF
authors.lastname: Gonçalves
authors.affiliation: Departamento de Biologia Celular, Embriologia e Genética, Universidade Federal de Santa Catarina, 88040-900, Florianópolis, Santa Catarina, Brazil;
authors.forename: Andrea R
authors.initials: AR
authors.lastname: Marrero
authors.affiliation: Departamento de Biologia Celular, Embriologia e Genética, Universidade Federal de Santa Catarina, 88040-900, Florianópolis, Santa Catarina, Brazil;
authors.forename: Yara C
authors.initials: YC
authors.lastname: Muniz
authors.affiliation: Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, 6020 Innsbruck, Austria;
authors.forename: Hansi
authors.initials: H
authors.lastname: Weissensteiner
authors.affiliation: Cancer Genomics Research Laboratory, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 20850;
authors.forename: Meredith
authors.initials: M
authors.lastname: Yeager
authors.affiliation: Department of Infectious Disease Epidemiology, Faculty of Epidemiology, London School of Hygiene and Tropical Medicine, London WC1E 7HT, United Kingdom;
authors.forename: Laura C
authors.initials: LC
authors.lastname: Rodrigues
authors.affiliation: Instituto de Saúde Coletiva, Universidade Federal da Bahia, 40110-040, Salvador, Bahia, Brazil;
authors.forename: Mauricio L
authors.initials: ML
authors.lastname: Barreto
authors.affiliation: Instituto de Pesquisa Rene Rachou, Fundação Oswaldo Cruz, 30190-002, Belo Horizonte, Minas Gerais, Brazil.
authors.forename: M Fernanda
authors.initials: MF
authors.lastname: Lima-Costa
authors.affiliation: Instituto do Coração, Universidade de São Paulo, 05403-900, São Paulo, Sao Paulo, Brazil;
authors.forename: Alexandre C
authors.initials: AC
authors.lastname: Pereira
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil;
authors.forename: Maíra R
authors.initials: MR
authors.lastname: Rodrigues
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901, Belo Horizonte, Minas Gerais, Brazil; edutars@icb.ufmg.br.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Tarazona-Santos
mesh_terms: D044383:Black People / Q000235:genetics; D001938:Brazil; D005828:Genetics, Population; D006801:Humans; D009154:Mutation; D044465:White People / Q000235:genetics; D001741:Black or African American
keywords: Bambuí Cohort Study of Ageing; Latin America; Pelotas Birth Cohort Study; Salvador SCAALA; population genetics