title: A minimum set of ancestry informative markers for determining admixture proportions in a mixed American population: the Brazilian set.
abstract: The Brazilian population is considered to be highly admixed. The main contributing ancestral populations were European and African, with Amerindians contributing to a lesser extent. The aims of this study were to provide a resource for determining and quantifying individual continental ancestry using the smallest number of SNPs possible, thus allowing for a cost- and time-efficient strategy for genomic ancestry determination. We identified and validated a minimum set of 192 ancestry informative markers (AIMs) for the genetic ancestry determination of Brazilian populations. These markers were selected on the basis of their distribution throughout the human genome, and their capacity of being genotyped on widely available commercial platforms. We analyzed genotyping data from 6487 individuals belonging to three Brazilian cohorts. Estimates of individual admixture using this 192 AIM panels were highly correlated with estimates using ~370 000 genome-wide SNPs: 91%, 92%, and 74% of, respectively, African, European, and Native American ancestry components. Besides that, 192 AIMs are well distributed among populations from these ancestral continents, allowing greater freedom in future studies with this panel regarding the choice of reference populations. We also observed that genetic ancestry inferred by AIMs provides similar association results to the one obtained using ancestry inferred by genomic data (370 K SNPs) in a simple regression model with rs1426654, related to skin pigmentation, genotypes as dependent variable. In conclusion, these markers can be used to identify and accurately quantify ancestry of Latin Americans or US Hispanics/Latino individuals, in particular in the context of fine-mapping strategies that require the quantification of continental ancestry in thousands of individuals.
authors.affiliation: Laboratory of Genetics and Molecular Cardiology, Heart Institute, Medical School of University of São Paulo (InCor - FMUSP), São Paulo, Brazil.
authors.forename: Hadassa C
authors.initials: HC
authors.lastname: Santos
authors.affiliation: Laboratory of Genetics and Molecular Cardiology, Heart Institute, Medical School of University of São Paulo (InCor - FMUSP), São Paulo, Brazil.
authors.forename: Andréa V R
authors.initials: AV
authors.lastname: Horimoto
authors.affiliation: General Biology Department, Federal University of Minas Gerais, Minas Gerais, Brazil.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Tarazona-Santos
authors.affiliation: General Biology Department, Federal University of Minas Gerais, Minas Gerais, Brazil.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Rodrigues-Soares
authors.affiliation: Institute of Public Health, Federal University of Bahia, Bahia, Brazil.
authors.forename: Mauricio L
authors.initials: ML
authors.lastname: Barreto
authors.affiliation: Federal University of Pelotas, Rio Grande do Sul, Brazil.
authors.forename: Bernardo L
authors.initials: BL
authors.lastname: Horta
authors.affiliation: Rene Rachou Research Institute, Oswaldo Cruz Foundation, Minas Gerais, Brazil.
authors.forename: Maria F
authors.initials: MF
authors.lastname: Lima-Costa
authors.affiliation: General Biology Department, Federal University of Minas Gerais, Minas Gerais, Brazil.
authors.forename: Mateus H
authors.initials: MH
authors.lastname: Gouveia
authors.affiliation: General Biology Department, Federal University of Minas Gerais, Minas Gerais, Brazil.
authors.forename: Moara
authors.initials: M
authors.lastname: Machado
authors.affiliation: Institute of Public Health, Federal University of Bahia, Bahia, Brazil.
authors.forename: Thiago M
authors.initials: TM
authors.lastname: Silva
authors.affiliation: Laboratory of Genetics and Molecular Cardiology, Heart Institute, Medical School of University of São Paulo (InCor - FMUSP), São Paulo, Brazil.
authors.forename: José M
authors.initials: JM
authors.lastname: Sanches
authors.affiliation: Laboratory of Genetics and Molecular Cardiology, Heart Institute, Medical School of University of São Paulo (InCor - FMUSP), São Paulo, Brazil.
authors.forename: Nubia
authors.initials: N
authors.lastname: Esteban
authors.affiliation: General Biology Department, Federal University of Minas Gerais, Minas Gerais, Brazil.
authors.forename: Wagner C S
authors.initials: WC
authors.lastname: Magalhaes
authors.affiliation: General Biology Department, Federal University of Minas Gerais, Minas Gerais, Brazil.
authors.forename: Maíra R
authors.initials: MR
authors.lastname: Rodrigues
authors.affiliation: General Biology Department, Federal University of Minas Gerais, Minas Gerais, Brazil.
authors.forename: Fernanda S G
authors.initials: FS
authors.lastname: Kehdy
authors.affiliation: Laboratory of Genetics and Molecular Cardiology, Heart Institute, Medical School of University of São Paulo (InCor - FMUSP), São Paulo, Brazil.
authors.forename: Alexandre C
authors.initials: AC
authors.lastname: Pereira
mesh_terms: D044467:American Indian or Alaska Native; D044383:Black People; D001938:Brazil; D005819:Genetic Markers; D015894:Genome, Human; D006801:Humans; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011153:Population / Q000235:genetics*; D012880:Skin Pigmentation / Q000235:genetics; D044465:White People
chemical_list: D005819:Genetic Markers