Genetic Ancestry and Self-Reported "Skin Color/Race" in the Urban Admixed Population of São Paulo City, Brazil

Author(s)

Pereira, Jaqueline L. ; de Souza, Camila A. ; Neyra, Jennyfer E. M. ; Leite, Jean M. R. S. ; Cerqueira, Andressa ; Mingroni-Netto, Regina C. ; Soler, Julia M. P. ; Rogero, Marcelo M. ; Sarti, Flavia M. ; Fisberg, Regina M.

• Document type: Journal article
• Source: GENES; v. 15, n. 7, p. 21-pg., 2024-07-01.

Abstract

Epidemiological studies frequently classify groups based on phenotypes like self-reported skin color/race, which inaccurately represent genetic ancestry and may lead to misclassification, particularly among individuals of multiracial backgrounds. This study aimed to characterize both global and local genome-wide genetic ancestries and to assess their relationship with self-reported skin color/race in an admixed population of Sao Paulo city. We analyzed 226,346 single-nucleotide polymorphisms from 841 individuals participating in the population-based ISA-Nutrition study. Our findings confirmed the admixed nature of the population, demonstrating substantial European, significant Sub-Saharan African, and minor Native American ancestries, irrespective of skin color. A correlation was observed between global genetic ancestry and self-reported color-race, which was more evident in the extreme proportions of African and European ancestries. Individuals with higher African ancestry tended to identify as Black, those with higher European ancestry tended to identify as White, and individuals with higher Native American ancestry were more likely to self-identify as Mixed, a group with diverse ancestral compositions. However, at the individual level, this correlation was notably weak, and no deviations were observed for specific regions throughout the individual's genome. Our findings emphasize the significance of accurately defining and thoroughly analyzing race and ancestry, especially within admixed populations. (AU)

• FAPESP's process: 12/22113-9 - Biochemical indicators of micronutrient status and usual intakes of residents from the City of São Paulo - ISA-Capital Survey 2013
• Grantee: Regina Mara Fisberg
• Support Opportunities: Regular Research Grants
• FAPESP's process: 17/05125-7 - Lifestyle, biochemical and genetic markers as cardiometabolic risk factors: Health Survey in São Paulo City
• Grantee: Regina Mara Fisberg
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 19/23985-9 - Investigation of molecular bases of multifactorial chronic diseases in the population of São Paulo by GWAS
• Grantee: Jaqueline Lopes Pereira França
• Support Opportunities: Scholarships in Brazil - Post-Doctoral