Journal de recherche médico-légale

Relationship between Ancestry Inferred By Molecular Analysis, Self-Report and Hetero-Classification

Abstract

Pablo Abdon da Costa Francez, Adriano Ruiz Lima, Rivelton Riverson Pereira de Almeida and Sidney Emanuel Batista dos Santos

Population stratification is the main cause of spurious results and the difficulty of replicating genetic association findings. In admixed populations, there is evidence that such proxies do not provide efficient control of stratification. We aimed to evaluate the statistical relationship between self-reported, hetero-classified and genetic ancestry, defined by categories of skin color and individual ancestry estimates and by the genotyping of 48 ancestry-informative indel markers in a sample of 130 volunteers from the city of Macapá in the Amazonian state of Amapá - Brazil. Five groups of self- reported skin color were defined: white, light brown, middle brown, dark brown and blacks, and three groups of predominant ancestry were defined: European, African and Native American. The results showed a significant correlation between skin color and predominant ancestry, self-reported and hetero-classified by volunteers, in comparison with the genetic ancestry, an important potential application of these AIMs in forensic investigations.