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

Author(s)

de Andrade Ramos, Bruna Ribeiro ^[1] ; Barbieri D'Elia, Maria Paula ^[2] ; Trindade Amador, Marcos Antonio ^[3] ; Carneiro Santos, Ney Pereira ^[3] ; Batista Santos, Sidney Emanuel ^[3] ; Castelli, Erick da Cruz ^[1] ; Witkin, Steven S. ^[4] ; Miot, Helio Amante ^[2] ; Bartoli Miot, Luciane Donida ^[2] ; da Silva, Marcia Guimaraes ^[1]

Affiliation

^[1] Sao Paulo State Univ, Botucatu Med Sch, Dept Pathol, UNESP, BR-18618970 Sao Paulo - Brazil

^[2] Sao Paulo State Univ, Botucatu Med Sch, Dept Dermatol & Radiotherapy, UNESP, BR-18618970 Sao Paulo - Brazil

^[3] Fed Univ Para, Inst Biol Sci, Dept Genet, UFPA, BR-66059 Belem, Para - Brazil

^[4] Weill Cornell Med Coll, Dept Obstet & Gynecol, New York, NY - USA

• Document type: Journal article
• Source: Genetica; v. 144, n. 3, p. 259-265, JUN 2016.
• Web of Science Citations: 18

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. (AU)

• FAPESP's process: 11/08083-7 - Polymorphisms in immunoregulatory genes and the risk of preterm premature rupture of membranes and preterm labor.
• Grantee: Bruna Ribeiro de Andrade Ramos
• Support Opportunities: Scholarships in Brazil - Doctorate
• FAPESP's process: 11/09433-1 - Polymorphisms in immunoregulatory genes and the risk of preterm premature rupture of membranes and preterm labor.
• Grantee: Márcia Guimarães da Silva
• Support Opportunities: Regular Research Grants