Historical genetics: Spatiotemporal analysis of the formation of the Brazilian population

Callegari-Jacques, Sídia Maria; Grattapaglia, Dário; Salzano, Francisco M.; Salamoni, Sabrina Pinto; Crossetti, Shaiane Goulart; Ferreira, E.; Hutz, Mara H.

doi:10.1002/ajhb.10217

Cited by 118 publications

(105 citation statements)

References 7 publications

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“…Conversely, in self-identified black Brazilians, European ancestry is higher in the Y chromosome as compared to the mtDNA. [2][3][4][5] These observations are consistent with the evidence of asymmetrical mating in relation to sex and ethnicity, which occurred in the formation of the Brazilian population. The extensive admixture of Brazilians makes also ethnic classifications, based on continental origin, parental background or physical appearance rather relative.…”

supporting

confidence: 78%

Pharmacogenomics in admixed populations: the Brazilian pharmacogenetics/pharmacogenomics network—REFARGEN

Suarez‐Kurtz

2004

Pharmacogenomics J

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Interethnic genetic differences in the prevalence of polymorphisms affecting drug-metabolizing enzymes, drug transporters, and receptors are well documented and must be considered within the perspective of individualized pharmacotherapy. Pharmacologically relevant genetic polymorphisms are rarely present or absent exclusively in one of the three major continental populations (African, Asian and European) that have been more extensively investigated. Possible examples are the CYP2C9*2 allele, which has not been reported in Asians, and both TPMT*2 and *3A, which appear to be absent in Africans. In most cases of documented interethnic pharmacogenomic differences, it is the allelic frequency of polymorphic loci which vary across continental populations; the mean variation, however, remains substantially smaller than the variation between individuals comprising these populations. This is not surprising, since only B10% of the total human genetic diversity stems from continental rather than individual differences. Irrespective of whether human 'races' are social constructs without biological meaning, there is overwhelming evidence for genetic admixture in people from different ancestries in most, if not all populations.In the American continent, the autochtonous Amerindians, and people of European and African origin, contributed in different degrees and in a genderspecific manner to the formation of the tri-hybrid population of the present time. In the United States, the average European admixture in African-Americans has been estimated as B19-26%, whereas the percentage of non-European alleles in Euro-Americans is less than 5%.1 Brazil, the largest country in South America and the fifth largest in the world, is inhabited by a highly heterogeneous population of 180 million people. Estimates based on matrilineal ancestry (mitochondrial DNA (mtDNA) haplotypes) in Brazilians self-identified as white indicate similar contributions (30-40%) of Amerindian, African and European females, although significant regional differences were noted, with higher Amerindian contribution in the North region and predominance of European ancestry in the South. In contrast, less than 5% of the patrilineal ancestry (Y-chromosome) in white Brazilians was non-European. Conversely, in self-identified black Brazilians, European ancestry is higher in the Y chromosome as compared to the mtDNA. [2][3][4][5] These observations are consistent with the evidence of asymmetrical mating in relation to sex and ethnicity, which occurred in the formation of the Brazilian population. The extensive admixture of Brazilians makes also ethnic classifications, based on continental origin, parental background or physical appearance rather relative. Furthermore, race identification is not a static characteristic-a person who is 'black' in the United States may be 'white' in Brazil, where no racial descent rule is operational, and it is possible for two siblings differing in 'color' to be included in diverse racial or ethnic categories.Interethnic admixture introduc...

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supporting

confidence: 78%

Pharmacogenomics in admixed populations: the Brazilian pharmacogenetics/pharmacogenomics network—REFARGEN

Suarez‐Kurtz

2004

Pharmacogenomics J

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“…Two complementary possibilities can be proposed, one methodological and one historical. Regarding the first, some authors consider that STRs underestimate the African contribution (Callegari-Jacques et al, 2003). However, this explanation seems unlikely given that analyses performed using 1814 ancestry informative markers (AIMs) agree with our results (Silva-Zolezzi et al, 2009).…”

Section: Discussionsupporting

confidence: 56%

Exploring the African genetic influence in the first settlement founded by African slaves in America

Solé-Llussà

Gorostiza

Rubí-Castellanos

et al. 2015

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The present study aims to outline the genetic makeup of the current population of the town of Yanga (Veracruz State, Mexico), the first Latin American settlement founded by African slaves in Mexico. For this purpose, we carried out the genetic characterization of 60 individuals from Yanga, analysing 15 autosomal short tandem repeats (STRs) and interpreting the results in the context of the admixed population known as Mexican mestizos. The genetic contribution from the three most important human groups in the current admixed Yanga population was calculated using Structure software. We detected a high percentage of Amerindian (48%) and European inheritance (44.7%), and a much less important African contribution (7.3%). These results were then compared with 10 other Mexican mestizo populations. The results fit the tri-hybrid model for admixture characterized by a high genetic contribution from Europeans and Africans in the north-though the African influence is lower-and a decreasing contribution from these two populations to the south and southeast. Conversely, the Amerindian component presents maximum values in the south and minimum values in the north. The Amerindian and European genetic traces are related to their ancestral settlements, but the African contribution can be explained by other parameters. To understand the current African genetic traces, we have to assume that there was a redistribution of these population groups and an important admixture phenomenon which led to the dilution of the African ancestral genetic pool. Furthermore, admixture was favoured by conditions that allowed individuals who intermarried to ascend in social status. These reasons would explain why despite the fact that Yanga was founded by black slaves, high levels of African ancestry are not found in the current population.

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“…Since then, emigration of individuals from different countries and continents with diverse ethnic backgrounds has contributed to the establishment of the genetic pool of the contemporary Brazilian population. These parental contributions included a constant influx of Portuguese, 4 million Africans (mainly from West-Central Africa) and 3.9 million Europeans (other than Portuguese), who arrived here in the 19th and 20th centuries (1).…”

mentioning

confidence: 99%

Frequency of CCR5delta32 in Brazilian populations

Vargas

Marrero

Salzano

et al. 2006

Braz J Med Biol Res

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A sample of 103 randomly chosen healthy individuals from Alegrete, RS, Brazil, was tested for the CCR5∆32 allele, which is known to influence susceptibility to HIV-1 infection. The CCR5∆32 allele was identified by PCR amplification using specific primers flanking the region of deletion, followed by electrophoresis on a 3% agarose gel. The data obtained were compared to those reported for other populations and interpreted in terms of Brazilian history. The individuals studied came from a highly admixed population. Most of them were identified as white (N = 59), while blacks and browns (mulattoes) were N = 13 and N = 31, respectively. The observed frequencies, considering the white, black and brown samples (6.8, 3.8, and 6.4%, respectively), suggest an important European parental contribution, even in populations identified as black and brown. However, in Brazil as a whole, this allele shows gradients indicating a relatively good correlation with the classification based on skin color and other physical traits, used here to define major Brazilian population groups. Correspondence

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Historical genetics: Spatiotemporal analysis of the formation of the Brazilian population

Cited by 118 publications

References 7 publications

Pharmacogenomics in admixed populations: the Brazilian pharmacogenetics/pharmacogenomics network—REFARGEN

Pharmacogenomics in admixed populations: the Brazilian pharmacogenetics/pharmacogenomics network—REFARGEN

Exploring the African genetic influence in the first settlement founded by African slaves in America

Frequency of CCR5delta32 in Brazilian populations

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