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Neither self-reported ethnicity nor declared family origin are reliable indicators of genomic ancestry

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Abstract

Ancestry information can be useful in investigations of diseases with a genetic or infectious background. As the Brazilian population is highly admixed physical traits tend to be poor indicators of ancestry. The assessment of ancestry by ancestry informative markers (AIMs) can exclude the subjectivity of self-declared ethnicity and reported family origin. We aimed to evaluate the reliability of self-reported ethnicity or reported family origin as indicators of genomic ancestry in a female population from the Southeast of Brazil. Two cohorts were included: 404 women asked to self-report their ethnicity (Pop1) and 234 women asked to report their family’s origin (Pop2). Identification of AIMs was performed using a panel of 61 markers and results were plotted against parental populations—Amerindian, Western European and Sub-Saharan African—using Structure v2.3.4. In Pop1 57.4 % of women self-reported as white, 34.6 % as brown and 8.0 % as black. Median global European, Amerindian and African contributions were 66.8, 12.6 and 16.6 %. In Pop2, 66.4 % of women declared European origin, 23.9 % African origin and 26.9 % Amerindian. Median global European, Amerindian and African contributions were 80.8, 7.3 and 7.6 %, respectively. Only 31.0 and 21.0 % of the global variation in African and European contributions, respectively, could be explained by self-reported ethnicity and reported family origin only accounted for 20.0 and 5.0 % of the variations observed in African and European ancestries, respectively. Amerindian ancestry did not influence self-reported ethnicity or declared family origin. Neither self-reported ethnicity nor declared family origin are reliable indicators of genomic ancestry in these Brazilian populations.

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Acknowledgments

We would like to acknowledge all patients that have participated in this study. This study was supported by the São Paulo Research Foundation (FAPESP)—Grants 2011/09433-1 and 2011/08083-7—and by the São Paulo Foundation for Dermatology (FUNADERSP)—Grant 09/2013.

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Authors and Affiliations

  1. Department of Pathology, Botucatu Medical School, São Paulo State University – UNESP, Distrito de Rubião Júnior, Botucatu, São Paulo, 18618-970, Brazil

    Bruna Ribeiro de Andrade Ramos, Erick da Cruz Castelli & Márcia Guimarães da Silva

  2. Depatment of Dermatology and Radiotherapy, Botucatu Medical School, São Paulo State University – UNESP, Botucatu, São Paulo, Brazil

    Maria Paula Barbieri D’Elia, Hélio Amante Miot & Luciane Donida Bartoli Miot

  3. Depatment of Genetics, Biological Sciences Institute, Pará Federal University – UFPA, Belém, Pará, Brazil

    Marcos Antônio Trindade Amador, Ney Pereira Carneiro Santos & Sidney Emanuel Batista Santos

  4. Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY, USA

    Steven S. Witkin

Authors
  1. Bruna Ribeiro de Andrade Ramos
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  2. Maria Paula Barbieri D’Elia
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  3. Marcos Antônio Trindade Amador
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  4. Ney Pereira Carneiro Santos
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  5. Sidney Emanuel Batista Santos
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  6. Erick da Cruz Castelli
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  7. Steven S. Witkin
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  8. Hélio Amante Miot
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  9. Luciane Donida Bartoli Miot
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  10. Márcia Guimarães da Silva
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Correspondence to Márcia Guimarães da Silva.

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The authors declare that they have no conflict of interest. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Ramos, B.R., D’Elia, M.P.B., Amador, M.A.T. et al. Neither self-reported ethnicity nor declared family origin are reliable indicators of genomic ancestry. Genetica 144, 259–265 (2016). https://doi.org/10.1007/s10709-016-9894-1

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  • DOI: https://doi.org/10.1007/s10709-016-9894-1

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