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Analysis of Principal Components of Y chromosome haplogroup frequency data. The projection of the variables on the 1 ! 2 component plane is shown. The black circles indicate populations from West Africa and the open circles designate populations of West-Central Africa. The arrow points toward the Black Brazilians from São Paulo.
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Approximately four million Africans were taken as slaves to Brazil, where they interbred extensively with Amerindians and Europeans. We have previously shown that while most White Brazilians carry Y chromosomes of European origin, they display high proportions of African and Amerindian mtDNA lineages, because of sex-biased genetic admixture.
We stu...
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The human Y chromosome contains highly informative markers for making historical inferences about the pre-Columbian peopling of Americas. However, the scarcity of these markers has limited its use in the inference of shared ancestry and past migrations relevant to the origin of the culturally and biologically diverse Native Americans. To identify n...
To investigate the evolutionary and demographic history of the Gaucho, a distinct population of southern Brazil, relating it to their culture, to assess possible parallel continuity.
Six binary polymorphisms, an Alu insertion polymorphism (YAP) and 12 short tandem repeat loci in the non-recombining region of the Y-chromosome, as well as the sequenc...
Citations
... A European origin was assigned to 7% of the mtDNAs in AN, all from haplogroup U6a. In a previous study [9] on Afro-Brazilians from São Paulo, the U6a haplogroup was interpreted as a North African contribution. Although originated in North Africa, U6a is frequent in Iberian populations due the Muslim invasion [10][11][12]. ...
This study aimed to investigate genetic diversity and ancestry in Afro-descendants from the Andes (AN) and the Pacific Coast (PC) regions of Ecuador, using autosomal and lineage markers. CR-mtDNA and PPY23-STRs showed high haplotype diversities. Statistically significant differences were found between AN and PC. Due to different patterns of sex-biased matting, differences between regions were more pronounced for the mtDNA than for the Y-chromosomal markers. A lower African ancestry was detected in AN than PC, for autosomal and both maternal and paternal lineage markers.
... Historical records suggest that a higher proportion of Bantu (mainly from Central-Western and, secondarily, Southeastern Africa) than of Niger-Congo non-Bantu people (Western Africa) were brought to Brazil over the colonial period (Klein 2002) . These proportions, however, fluctuated over time and space, and diverse patterns of African ancestry have been detected for different Brazilian regions in genetic and anthropological studies (Bortolini et al. 1999;Klein 2002;Silva et al. 2006;Hünemeier et al. 2007;Gonçalves et al. 2008;Gouveia et al. 2020). ...
... For the first time, we report the uniparental and autosomal admixture proportions of Brazil's Central-Western region, representing the largest proportion (73.9%, n = 323) of our urban sample. We included samples from its four states and have found the highest Amerindian paternal ancestry yet described for a Brazilian region, only comparable with that found in Northern Brazil (> 8%) (Carvalho-Silva et al. 2001;Abe-Sandes et al. 2004;Marrero et al. 2005;Barcelos et al. 2006;Ferreira et al. 2006;Hünemeier et al. 2007;Gonçalves et al. 2008;Carvalho et al. 2010;Resque et al. 2016;Figueiredo et al. 2016;Braganholi et al. 2017). Southeastern and Southern regions presented even lower Amerindian paternal ancestry (< 5%), as already reported (Carvalho-Silva et al. 2001;Marrero et al. 2005;Ferreira et al. 2006;Hünemeier et al. 2007;Gonçalves et al. 2008;Resque et al. 2016;Figueiredo et al. 2016;Braganholi et al. 2017) . ...
... We included samples from its four states and have found the highest Amerindian paternal ancestry yet described for a Brazilian region, only comparable with that found in Northern Brazil (> 8%) (Carvalho-Silva et al. 2001;Abe-Sandes et al. 2004;Marrero et al. 2005;Barcelos et al. 2006;Ferreira et al. 2006;Hünemeier et al. 2007;Gonçalves et al. 2008;Carvalho et al. 2010;Resque et al. 2016;Figueiredo et al. 2016;Braganholi et al. 2017). Southeastern and Southern regions presented even lower Amerindian paternal ancestry (< 5%), as already reported (Carvalho-Silva et al. 2001;Marrero et al. 2005;Ferreira et al. 2006;Hünemeier et al. 2007;Gonçalves et al. 2008;Resque et al. 2016;Figueiredo et al. 2016;Braganholi et al. 2017) . ...
The Brazilian population is a product of asymmetric admixture among European men and Amerindian and African women. However, Brazilian subcontinental ancestry is scarcely documented, especially regarding its African roots. Here, we aimed to unveil the uniparental continental and subcontinental contributions from distinct Brazilian regions, including South (n = 43), Southeast (n = 71), the poorly genetically characterized Central-Western region (n = 323), and a subset of unique Brazilian Amerindians (n = 24), in the context of their genome-wide ancestral contributions. The overwhelming majority of European Y haplogroups (85%) contrast sharply with the predominant African and Amerindian mtDNA haplogroups (73.2%) in admixed populations, whereas in Amerindians, non-Native haplogroups could only be detected through the paternal line. Our in-depth investigation of uniparental markers showed signals of an Andean and Central-Brazilian Amerindian maternal contribution to Southeastern and Central-Western Brazil (83.1 ± 2.1% and 56.9 ± 0.2%, respectively), the last having the highest paternal Amerindian ancestry yet described for an admixed Brazilian region (9.7%) and contrasting with higher Southern-Brazilian Amerindian contribution to Southern Brazil (59.6 ± 1%). Unlike the higher African Bantu contribution previously reported for the South and Southeast, a relevant Western African non-Bantu contribution was detected in those regions (85.7 ± 5% and 71.8 ± 10.8% respectively). In contrast, a higher Bantu contribution was described for the first time in the Central-West (64.8 ± 1.3% maternal and 86.9 ± 9.6% paternal). We observed sex-biased signatures consistent with the historically recorded Brazilian colonization and added new insights in the subcontinental maternal ancestry of Brazilians from regions never studied at this level.
... Furthermore, population geneticists identified important variation in the African genomic ancestry across Brazil (18,19), a country that received the majority (∼70%; ∼ 4.8 million) of all enslaved-Africans deported to continental Latin America during the TAST (Fig. 1). African ancestries ranged, on average, from 14.7% in the inland South-East of Brazil, and mainly originated from the South-West and South-East of Africa, to 50.8% in the North-East of the country (Fig. 2), with West African origins more frequent in this later region (20,21). ...
... Indeed, some studies consider cohorts sampled from the general population with inclusion criteria based on geography, and/or medical or socioeconomic status, rather than self-reported ancestral origins or census categories (20,28). Other studies focus instead on groups of individuals from census categories in relation to African descent (19,43,51), shown above to possibly designate different populations with different demographic histories across the Americas. In general, whether participating individuals have known genealogical relationships with enslaved-Africans during the TAST, with post-slavery African-immigrants, with admixed populations, or categorized as 'Afro-descendants' based on phenotypic features only, remains too often undiscussed in population genetics studies. ...
During the Trans-Atlantic Slave Trade (TAST), around twelve million Africans were enslaved and forcibly moved from Africa to the Americas and Europe, durably influencing the genetic and cultural landscape of a large part of humanity since the 15th century. Following historians, archaeologists, and anthropologists, population geneticists have, since the 1950’s mainly, extensively investigated the genetic diversity of populations on both sides of the Atlantic. These studies shed new lights into the largely unknown genetic origins of numerous enslaved-African descendant communities in the Americas, by inferring their genetic relationships with extant African, European, and Native American populations. Furthermore, exploring genome-wide data with novel statistical and bioinformatics methods, population geneticists have been increasingly able to infer the last 500 years of admixture histories of these populations. These inferences have highlighted the diversity of histories experienced by enslaved-African descendants, and the complex influences of socio-economic, political, and historical contexts on human genetic diversity patterns during and after the slave trade. Finally, the recent advances of paleogenomics unveiled crucial aspects of the life and health of the first generation of enslaved Africans in the Americas. Altogether, human population genetics approaches in the genomic and paleogenomic era need to be coupled with history, archaeology, anthropology, and demography in interdisciplinary research, to reconstruct the multifaceted and largely unknown history of the TAST and its influence on human biological and cultural diversities today. Here, we review anthropological genomics studies published over the past 15 years and focusing on the history of enslaved-African descendant populations in the Americas.
... Due to its intricate demography and population history, the Brazilian population is well suited for studies in the genetics of pigmentation and ancestry. The European ancestral population is the main contributor, while the African and Native American populations are the minor contributors [16,17]. Because of the large pigmentary differences between the parental populations, large pigmentary variations are observed within the Brazilian population. ...
... Rio de Janeiro is located in the South Eastern part of Brazil. Individuals living in the North East and Northern parts of Brazil are expected to have higher proportions of the African and Native American ancestry, respectively [16,17]. We did not find a significant correlation between the proportion of the Native American ancestry and skin pigmentation (adjusted R 2 < 0.01, p > 0.05). ...
Although many genes have been shown to be associated with human pigmentary traits and forensic prediction assays exist (e.g. HIrisPlex-S), the genetic knowledge about skin colour remains incomplete. The highly admixed Brazilian population is an interesting study population for investigation of the complex genotype-phenotype architecture of human skin colour because of its large variation. Here, we compared variants in 22 pigmentary genes with quantitative skin pigmentation levels on the buttock, arm, and forehead areas of 266 genetically admixed Brazilian individuals. The genetic ancestry of each individual was estimated by typing 46 AIM-InDels. The mean proportion of genetic ancestry was 68.8% European, 20.8% Sub-Saharan African, and 10.4% Native American. A high correlation (adjusted R2 = 0.65, p < 0.05) was observed between nine SNPs and quantitative skin pigmentation using multiple linear regression analysis. The correlations were notably smaller between skin pigmentation and biogeographic ancestry (adjusted R2 = 0.45, p < 0.05), or markers in the leading forensic skin colour prediction system, the HIrisPlex-S (adjusted R2 = 0.54, p < 0.05). Four of the nine SNPs, OCA2 rs1448484 (rank 2), APBA2 rs4424881 (rank 4), MFSD12 rs10424065 (rank 8), and TYRP1 1408799 (rank 9) were not investigated as part of the HIrisPlex-S selection process, and therefore not included in the HIrisPlex-S model. Our results indicate that these SNPs account for a substantial part of the skin colour variation in individuals of admixed ancestry. Hence, we suggest that these SNPs are considered when developing future skin colour prediction models.
... In Brazil, self-declared race/color is based on a complex subjective phenotypic and cultural assessment because the Brazilian population is highly admixed with the main ancestral contributing populations being European, African and Amerindian 14,15 . Of particular importance to the present work most Brazilians are defined as a mosaic of these three main ancestries and a much higher degree of discordance between self-referred race and genetic ancestry is seem as compared to the US [16][17][18] . ...
Resistant hypertension (RH) is defined as uncontrolled blood pressure despite treatment with three or more antihypertensive medications, including, if tolerated, a diuretic in adequate doses. It has been widely known that race is associated with blood pressure control. However, intense debate persists as to whether this is solely explained by unadjusted socioeconomical variables or genetic variation. In this scenario, the main aim was to evaluate the association between genetic ancestry and resistant hypertension in a large sample from a multicenter trial of stage II hypertension, the ReHOT study. Samples from 1,358 patients were analyzed, of which 167 were defined as resistant hypertensive. Genetic ancestry was defined using a panel of 192 polymorphic markers. The genetic ancestry was similar in resistant (52.0% European, 36.7% African and 11.3% Amerindian) and nonresistant hypertensive patients (54.0% European, 34.4% African and 11.6% Amerindian) (p > 0.05). However, we observed a statistically suggestive association of African ancestry with resistant hypertension in brown patient group. In conclusion, increased African genetic ancestry was not associated with RH in Brazilian patients from a prospective randomized hypertension clinical trial.
... In this way, we could note that the L0a maternal lineage, today found in high frequencies in Eastern Africa and Guinea (Salas et al., 2004), was described only for individuals from Basse-Terre. It is also worth noting that one of the L0 haplotypes detected in Basse-Terre has actually only been described in Jamaica and in the Afro-American (notably Afro-Brazilian) populations (Deason et al., 2012;Diegoli et al., 2009;Gonçalves et al., 2008;Ribeiro-dos-Santos, Carvalho, Feio-dos-Santos, & dos Santos, 2007). In contrast, maternal L3h and L4b lineages could be described only in Grande-Terre Island. ...
... Bortolini, Bydlowski, & Pena, 2008) groups. A summary of the shared haplotypes is presented inTable S5. ...
Objectives:
The history of the Caribbean region is marked by numerous and various successive migration waves that resulted in a global blending of African, European, and Amerindian lineages. As the origin and genetic composition of the current population of French Caribbean islands has not been studied to date, we used both mitochondrial DNA and Y-chromosome markers to complete the characterization of the dynamics of admixture in the Guadeloupe archipelago.
Materials and methods:
We sequenced the mitochondrial hypervariable regions and genotyped mitochondrial and Y-chromosomal single nucleotide polymorphisms (SNPs) of 198 individuals from five localities of the Guadeloupe archipelago.
Results:
The maternal haplogroups revealed a blend of 85% African lineages (mainly traced to Western, West-Central, and South-Eastern Africa), 12.5% Eurasian lineages, and 0.5% Amerindian lineages. We highlighted disequilibria between European paternal contribution (44%) and European maternal contribution (7%), pointing out an important sexual asymmetry. Finally, the estimated Native American component was strikingly low and supported the near-extinction of native lineages in the region.
Discussion:
We confirmed that all historically known migratory events indeed left a visible genetic imprint in the contemporary Caribbean populations. The data gathered clearly demonstrated the significant impact of the transatlantic slave trade on the Guadeloupean population's constitution. Altogether, the data in our study confirm that in the Caribbean region, human population variation is correlated with colonial and postcolonial policies and unique island histories.
... Although there is an important African ancestry in Brazil, a study with mitochondrial DNA shows that the Africans immigrants came from continental regions where the 13910T allele in MCM6 gene is prevalent [15] and not from the African Funali (people with high prevalence of LI) during slavery in Brazil [1]. However, this allele (13910T) was present in only 20% of Brazilian black population, suggesting that there was miscegenation with Europeans (with high lactose intolerance prevalence). ...
Lactose intolerance (LI) affects two-thirds of the population worldwide, and its prevalence varies according to ethnic characteristics. The aim of this mini review is to present and discuss the frequency of LI in Brazil, pointing out the importance to prevent the worst outcomes that LI may evoke. Our findings showed that there is high LI prevalence among Brazilians (>63%), and it is related to genetic programming inherited from different populations worldwide.
... Furthermore, ADs from Brazil have emigrated from different regions of Africa compared to those who migrated to the US. [20][21][22] Therefore, it may well be that the ONH phenotypic characteristics of the Brazilian population may not be comparable to those of other countries and may differ from OCT databases currently being used. The purpose of this study was to determine MRW and RNFLT measurements in a normal Brazilian population of self-reported AD, ED and MD (individuals who reported both European and African ancestry). ...
... However, recently, it has also been shown that eyes of AD from the US have larger BMO areas than ED eyes, in contrast to the findings in our study. As mentioned before, Brazilian ADs come from different African territories compared to US ADs [20][21][22]. On the other hand, it is also possible that the genetic admixture of the Brazilian population contributed to a more homogeneous ONH phenotype across the racial groups [37,38]. ...
Objective
To determine Bruch’s membrane opening (BMO) minimum rim width (MRW) and peripapillary retinal nerve fiber layer thickness (RNFLT) measurements, acquired with optical coherence tomography (OCT) in healthy Brazilian individuals self-reported as African Descent (AD), European Descent (ED) and Mixed Descent (MD).
Methods
260 healthy individuals (78 AD, 103 ED and 79 MD) were included in this cross-sectional study conducted at the Clinics Hospital of the University of Campinas. We obtained optic nerve head (24 radial B scans) and peripapillary retinal nerve fiber layer (3.5-mm circle scan) images in one randomly selected eye of each subject.
Results
After adjustment for BMO area and age, there were no significant differences in mean global MRW (P = 0.63) or RNFLT (P = 0.07) among the three groups. Regionally, there were no significant differences in either MRW or RNFLT in most sectors, except in the superonasal sector, in which both MRW and RNFLT were thinner among ED (P = 0.04, P<0.001, respectively). RNFLT was also thinner in ED in the inferonasal sector (P = 0.009). In all races, global MRW decreased and global RNFLT increased with BMO area. AD subjects had higher rates of global RNFLT decay with age (-0.32 μm/year) compared to ED and MD subjects (-0.10 μm/year and -0.08 μm/year, respectively; P = 0.01 and P = 0.02, respectively).
Conclusions and relevance
While we found no significant differences in global MRW and RNFLT among the three races, age-related thinning of the RNFLT was significantly higher in the AD subgroup, which warrants further study.
... In other cases, genetics, as an independent source of data, can confirm or refute existing historical reports. An example is the recent report among African-Brazilians in São Paulo (Brazil), which suggests that the relative African ancestral contributions are from West Central (45%), West (43%) and South East Africa (12%) (Goncalves et al., 2008). These data agree with reports in historical documents (Klein, 1986;Andrews, 1991). ...
https://www.jstor.org/stable/j.ctvh1dmwc.6
... This, however, would mean that in Sardinia the spread of the Neolithic culture was mainly carried out by women, in contrast with the available evidence 62 . Moreover, this view is also in contrast with studies of sex-biased admixture in modern communities, suggesting that the invading population tends to incorporate female residents more than males [63][64][65][66][67] . ...
Little is known about the genetic prehistory of Sardinia because of the scarcity of pre-Neolithic human remains. From a genetic perspective, modern Sardinians are known as genetic outliers in Europe, showing unusually high levels of internal diversity and a close relationship to early European Neolithic farmers. However, how far this peculiar genetic structure extends and how it originated was to date impossible to test. Here we present the first and oldest complete mitochondrial sequences from Sardinia, dated back to 10,000 yBP. These two individuals, while confirming a Mesolithic occupation of the island, belong to rare mtDNA lineages, which have never been found before in Mesolithic samples and that are currently present at low frequencies not only in Sardinia, but in the whole Europe. Preliminary Approximate Bayesian Computations, restricted by biased reference samples for Mesolithic Sardinia (the two typed samples) and Neolithic Europe (limited to central and north European sequences), suggest that the first inhabitants of the island have had a small or negligible contribution to the present-day Sardinian population, which mainly derives its genetic diversity from continental migration into the island by Neolithic times.
