Genetic Heterogeneity of Self-Reported Ancestry Groups in an Admixed Brazilian Population

Lins, Tulio Cesar de Lima; Vieira, Rodrigo G.; Abreu, Breno Silva de; Gentil, Paulo; Moreno-Lima, Ricardo; Oliveira, Ricardo Jacó de; Pereira, Rinaldo Wellerson

doi:10.2188/jea.je20100164

Cited by 52 publications

(53 citation statements)

References 41 publications

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“…However, we observed considerable dispersion within each group and substantial overlap in ancestry between groups when the standard deviation was considered (Figure 1). Similar results were found in other studies investigating sample populations from Brazil (Parra et al, 2003;Pimenta et al, 2006;SuarezKurtz et al, 2007;Santos et al, 2009;Lins et al, 2011;Pena et al, 2011).…”

Section: Discussionsupporting

confidence: 91%

“…Thus, we believe that the 15 AIMs used in our study are informative markers that can effectively estimate population admixture. Two other studies on the Federal District population (Midwest region) using 13 and 21 AIMs respectively also showed small variations in ancestry proportions (Lins et al, 2011;Leite et al, 2011).…”

Section: Discussionmentioning

confidence: 76%

“…The African contribution in Montes Claros (0.39) (Silva et al, 2010) is also higher than that in southeast Brazil (0.141-0.27) (Callegari-Jacques et al, 2003;Lins et al, 2010;Pena et al, 2011;Giolo et al, 2012), which may reflect the large flow of individuals of African origin to the state of Bahia where the African proportional contribution was reported at 0.29 (Pena et al, 2011). Similarly, the Federal District is another Brazilian locality with a relatively high contribution of African ancestry (0.21-0.254) compared to the overall contribution estimated for its geographically correlated region (the African ancestry contribution in Midwestern Brazil is approximately 0.18) (Callegari-Jacques et al, 2003;Lins et al, 2010;Lins et al, 2011;Leite et al, 2011). These data indicate that if the mean African ancestry contribution found for southeastern Brazil were extrapolated to Ouro Preto and Montes Claros, or if data from Midwest Brazil were extrapolated to the Federal District, the African contribution would be underestimated in these cities.…”

Section: Discussionmentioning

confidence: 97%

“…For instance, Instituto Brasileiro de Geografia e Estatística (IBGE) uses the color classification system in their household surveys and considers five skin color groups (white, black, yellow, brown, and indigenous) (IBGE, 2011). However, the validity of this color classification system is questionable for admixed populations because it is based on a subjective trait and apparently does not distinguish individuals by ancestral groups (Parra et al, 2003;Pimenta et al, 2006;Suarez-Kurtz et al, 2007;Santos et al, 2009;Lins et al, 2011;Pena et al, 2011;Leite et al, 2011). Moreover, self-identification has been shown to change over time (Hitlin et al, 2006;Santos et al, 2009), and even between sibling pairs, there was no satisfactory agreement between self-reported skin color groups or between self-reported skin color and melanin levels (Leite et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

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Genetic composition of a Brazilian population: the footprint of the Gold Cycle

Queiroz

Santos²,

Castro³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Ancestry-informative markers (AIMs) are powerful tools for inferring the genetic composition of admixed populations. In this study, we determined the genetic ancestry of the Ouro Preto (Brazil) population and evaluated the association between ancestry and self-reported skin color. The genetic ancestry of 189 children Genetic composition of a Brazilian population and adolescents was estimated by genotyping 15 AIMs. The estimate of population admixture was determined using the Bayesian Markov Chain Monte Carlo (MCMC) method implemented in two different programs (STRUCTURE and ADMIXMAP). Volunteers self-reported their skin colors. The European ancestry contribution ranged from 0.503 to 0.539, the African contribution ranged from 0.333 to 0.425, and the Amerindian component ranged from 0.04 to 0.164. The relative contributions of African (P < 0.016) and European (P < 0.011) ancestry differed significantly among skin color groups, except between black and dark-brown groups. The population of Ouro Preto has a higher contribution of African ancestry compared to the mean for the southeast region of Brazil. Therefore, extrapolating the African ancestry contribution for southeastern Brazil to the Ouro Preto population would underestimate the actual value for this city. We also showed that selfreported skin color could be appropriate for describing the genetic structure of this particular population.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Genetic composition of a Brazilian population: the footprint of the Gold Cycle

Queiroz

Santos²,

Castro³

et al. 2013

Genet. Mol. Res.

View full text Add to dashboard Cite

show abstract

“…However, stratification based on skin color does not reflect actual ancestral genetic contribution Pimenta et al, 2006;Suarez-Kurtz et al, 2007;Santos et al, 2009;Beuten et al, 2011;Lins et al, 2011;Pena et al, 2009Pena et al, , 2011. For instance, in Brazil, skin pigmentation correlates poorly with African ancestry .…”

Section: Introductionmentioning

confidence: 99%

Self-declared ethnicity and genomic ancestry in prostate cancer patients from Brazil

et al. 2016

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ABSTRACT. Some studies of polymorphisms in prostate cancer (PCa) analyze individuals in a uniform manner, regardless of genetic ancestry. However, PCa aggressiveness differs between subjects of African descent and those of European extraction. Thus, genetic ancestry analysis may be used to detect population stratification in case-control association studies. We genotyped 11 ancestry informative markers to estimate the contributions of African, European, and Amerindian ancestries in a case-control sample of 213 individuals from Bahia State, Northeast Brazil, including 104 PCa patients. We compared this data with self-reported ancestry and the stratification of cases by PCa aggressiveness according to Gleason score. A larger African genetic contribution (44%) was detected among cases, and a greater European contribution (61%) among controls. Self-declaration data revealed that 74% of PCa patients considered themselves non-white (black and brown), and 41.3% of controls viewed themselves as white. Our data showed a higher degree of European ancestry among fast-growing cancer cases than those of intermediate and slow development. This differs from many previous studies, in which the prevalence of African ancestry has been reported for all grades. Differences were observed between degrees of PCa aggressiveness in terms of genetic ancestry. In particular, the greater European contribution among patients with highgrade PCa indicates that a population's genetic structure can influence case-control studies. This investigation contributes to our understanding of the genetic basis of tumor aggressiveness among groups of different genetic ancestries, especially admixed populations, and has significant implications for the assessment of inter-population heterogeneity in drug treatment effects.

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Meta‐analysis of Brazilian genetic admixture and comparison with other Latin America countries

Moura

Coelho

Balbino

et al. 2015

American J Hum Biol

107

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ObjectivesThis study aims at performing a systematic review and meta‐analysis with the studies of genetic admixture inference of Brazilian population and to compare these results with the genetic admixture levels in other Latin American countries.MethodsWe searched for articles regarding the estimation of Brazilian genetic admixture published between 1980 and 2014 that used autosomal markers. Then, conducted meta‐analyses at the whole‐country and regional level. Finally, we compared the results of Brazil with other estimates from other South, Central and North American countries.ResultsWe analyzed data from 25 studies in 38 different Brazilian populations. European (EUR) ancestry is the major contributor to the genetic background of Brazilians, followed by African (AFR), and Amerindian (AMR) ancestries. The pooled ancestry contributions were 0.62 EUR, 0.21 AFR, and 0.17AMR. The Southern region had a greater EUR contribution (0.77) than other regions. Individuals from the Northeast (NE) region had the highest AFR contribution (0.27) whereas individuals from the North regions had more AMR contribution (0.32). In the Latin America context, Brazil has the 5th high EUR contribution, the 12th for the AFR component and the 10th for the AMR ancestry.ConclusionsAdmixture proportions vary greatly among Brazilian populations and also through Latin America. More studies in the Center‐West, North and NE regions are needed to capture a more complete picture of the genomic ancestry of Brazil. Am. J. Hum. Biol. 27:674–680, 2015. © 2015 Wiley Periodicals, Inc.

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Genetic Heterogeneity of Self-Reported Ancestry Groups in an Admixed Brazilian Population

Cited by 52 publications

References 41 publications

Genetic composition of a Brazilian population: the footprint of the Gold Cycle

Genetic composition of a Brazilian population: the footprint of the Gold Cycle

Self-declared ethnicity and genomic ancestry in prostate cancer patients from Brazil

Meta‐analysis of Brazilian genetic admixture and comparison with other Latin America countries

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