title: Analysis of genetic ancestry in the admixed Brazilian population from Rio de Janeiro using 46 autosomal ancestry-informative indel markers.
abstract: The Brazilian population is highly heterogeneous as a result of five centuries of inter-ethnic mating between native Amerindians, European colonizers and Africans arrived during slavery. This study aimed to assess the proportions of inter-ethnic admixture in the Brazilian population of Rio de Janeiro using autosomal Ancestry-Informative Markers (AIMs). The autosomal data were also compared to the results expected from uniparental genetic markers. A total of 413 individuals were genotyped for 46 AIM-Indels and ancestry estimates were then assessed using HGDP-CEPH samples as ancestral reference. Individuals from Rio de Janeiro presented highly diverse admixture patterns. The global admixture estimates showed a predominantly European ancestry, above 55%, followed by African and Amerindian contributions. A separate self-declared Afro-descendant group also included in this study revealed an increased African ancestry, from ∼30% to ∼50%. The inter-ethnic admixture landscape of Rio de Janeiro captured by autosomal AIM-Indels is in agreement with historical records and similar to that expected from uniparental mtDNA and Y-chromosome information. The AIM-Indel panel proved to be a rapid strategy to estimate autosomal genetic ancestry at individual and population levels in Rio de Janeiro, which is useful in population genetics and in case-control association studies.
authors.affiliation: DNA Diagnostic Laboratory, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
authors.forename: Fernanda Saloum Neves
authors.initials: FS
authors.lastname: Manta
authors.forename: Rui
authors.initials: R
authors.lastname: Pereira
authors.forename: Alexandre
authors.initials: A
authors.lastname: Caiafa
authors.forename: Dayse Aparecida
authors.initials: DA
authors.lastname: Silva
authors.forename: Leonor
authors.initials: L
authors.lastname: Gusmão
authors.forename: Elizeu Fagundes
authors.initials: EF
authors.lastname: Carvalho
mesh_terms: D044383:Black People; D001938:Brazil; D041322:Chromosomes, Human, Y / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D054643:INDEL Mutation; D007199:Indians, South American; D008297:Male; D044469:Racial Groups / Q000235:genetics*; D044465:White People
chemical_list: D004272:DNA, Mitochondrial; D005819:Genetic Markers