ArticlePloS one2013
Assessment of the relationship between self-declared ethnicity, mitochondrial haplogroups and genomic ancestry in Brazilian individuals.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed.
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- Tracing the Uncharted African Diaspora in Southern Brazil: The Genetic Legacies of Resistance in TwoGenes · 2025Article
- A Customized Human Mitochondrial DNA Database (hMITO DB v1.0) for Rapid Sequence Analysis, Haplotyping and Geo-Mapping.International journal of molecular sciences · 2023Article
- Uniparental markers reveal new insights on subcontinental ancestry and sex-biased admixture in Brazil.Molecular genetics and genomics : MGG · 2022Article
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- The application of machine learning to predict genetic relatedness using human mtDNA hypervariable region I sequences.PloS one · 2022Article
- Validation of low-coverage whole-genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth.Human mutation · 2021Article
- TheBiology of sport · 2021Article
- Genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in Type 1 Diabetes from an admixed Brazilian population.Scientific reports · 2021Article
- CCR5Δ32 in Brazil: Impacts of a European Genetic Variant on a Highly Admixed Population.Frontiers in immunology · 2021Review
- Genomic ancestry as a risk factor for diabetic retinopathy in patients with type 1 diabetes from an admixed population: a nested case-control study in Brazil.Acta diabetologica · 2020Article
- Worldwide human mitochondrial haplogroup distribution from urban sewage.Scientific reports · 2019Article
- Polymorphisms of mitochondrial DNA control region are associated to endometriosis.Journal of assisted reproduction and genetics · 2018Article
- Blood Mitochondrial DNA Content in HIV-Exposed Uninfected Children with Autism Spectrum Disorder.Viruses · 2018Article
- Tuberculosis in post-contact Native Americans of Brazil: Paleopathological and paleogenetic evidence from the Tenetehara-Guajajara.PloS one · 2018Article
- Mitochondrial DNA ancestry, HPV infection and the risk of cervical cancer in a multiethnic population of northeastern Argentina.PloS one · 2018Article
- mtDNA structure: the women who formed the Brazilian Northeast.BMC evolutionary biology · 2017Article
- Genome-Wide Analysis in Brazilians Reveals Highly Differentiated Native American Genome Regions.Molecular biology and evolution · 2017Article
- African ancestry is associated with facial melasma in women: a cross-sectional study.BMC medical genetics · 2017Article
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6 authors.
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Abstract
In populations that have a high degree of admixture, such as in Brazil, the sole use of ethnicity self-declaration information is not a good method for classifying individuals regarding their ethnicity. Here, we evaluate the relationship of self-declared ethnicities with genomic ancestry and mitochondrial haplogroups in 492 individuals from southeastern Brazil. Mitochondrial haplogroups were obtained by analyzing the hypervariable regions of the mitochondrial DNA (mtDNA), and the genomic ancestry was obtained using 48 autosomal insertion-deletion ancestry informative markers (AIM). Of the 492 individuals, 74.6% self-declared as White, 13.8% as Brown and 10.4% as Black. Classification of the mtDNA haplogroups showed that 46.3% had African mtDNA, and the genomic ancestry analysis showed that the main contribution was European (57.4%). When we looked at the distribution of mtDNA and genomic ancestry according to the self-declared ethnicities from 367 individuals who self-declared as White, 37.6% showed African mtDNA, and they had a high contribution of European genomic ancestry (63.3%) but also a significant contribution of African ancestry (22.2%). Of the 68 individuals who self-declared as Brown, 25% showed Amerindian mtDNA and similar contribution of European and African genomic ancestries. Of the 51 subjects who self-declared as black, 80.4% had African mtDNA, and the main contribution of genomic ancestry was African (55.6%), but they also had a significant proportion of European ancestry (32.1%). The Brazilian population had a uniform degree of Amerindian genomic ancestry, and it was only with the use of genetic markers (autosomal or mitochondrial) that we were able to capture Amerindian ancestry information. Additionally, it was possible to observe a high degree of heterogeneity in the ancestry for both types of genetic markers, which shows the high genetic admixture that is present in the Brazilian population. We suggest that in epidemiological studies, the use of these methods could provide complementary information.
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