Estimating Asian Contribution to the Brazilian Population: A New Application of a Validated Set of 61 Ancestry Informative Markers

Abstract

Estimates of different ancestral proportions in admixed populations are very important in population genetics studies, especially for the detection of population substructure effects in studies of case-control associations. Brazil is one of the most heterogeneous countries in the world, both from a socio-cultural and a genetic point of view. In this work, we investigated a previously developed set of 61 ancestry informative markers (AIM), aiming to estimate the proportions of four different ancestral groups (African, European, Native American and Asian) in Brazilian populations. To the best of our knowledge, this is the first study to use a set of AIM to investigate the genetic contribution of all four main parental populations to the Brazilian population, including Asian contribution. All selected markers were genotyped through multiplex PCR and capillary electrophoresis. The set was able to successfully differentiate the four ancestral populations (represented by 939 individuals) and identify their genetic contributions to the Brazilian population. In addition, it was used to estimate individual interethnic admixture of 1050 individuals from the Southeast region of Brazil and it showed that these individuals present a higher European ancestry contribution, followed by African, Asian and Native American ancestry contributions. Therefore, the 61 AIM set has proved to be a valuable tool to estimate individual and global ancestry proportions in populations mainly formed by these four groups. Our findings highlight the importance of using sets of AIM to evaluate population substructure in studies carried in admixed populations, in order to avoid misinterpretation of results.

Role of Genetic Ancestry in 1,002 Brazilian Colorectal Cancer Patients From Barretos Cancer Hospital

“…Our study did not intend to assess the causal relationship between genetic ancestry and CRC cancer as already done in other studies (64), but rather to correlate them with the various clinical-pathological characteristics of the patients. As expected, the predominant ancestral component was the EUR one, with an average of 74% followed by the AFR with 13%, and by the ASN and AME with 7%, agreeing with previous studies of the Brazilian population (13,63,65). In agreement with other studies (62), a predominance of the European ancestral component in the Southeast and South regions was observed (63).…”

Prevalence of hypertension among adolescents (10-19 years) in India: A systematic review and meta-analysis of cross-sectional studies

“…Another systematic review and meta-analysis of hypertension prevalence done among the Brazilian adolescents (10-19 years) by Goncalves [61] reported a pooled estimate of prevalence of 8.0% (95% CI 5.0 to 11.0%). This estimate is similar to our study finding which might be due to Asian contribution to the Brazilian population [62].…”

Investigation of INDEL variants in apoptosis: the relevance to gastric cancer

“…In addition to the panel of apoptosis markers, a panel of 61 ancestry informative markers (AIM) previously developed and expanded by our research group was also employed in this study, following the established protocols [15,16]. This was done considering that the Brazilian population is highly admixed in terms of genetic contributions from different parental populations, mainly European, African and Native American.…”