Abstract
The population of Argentina is the result of the intermixing between several groups, including Indigenous American, European and African populations. Despite the commonly held idea that the population of Argentina is of mostly European origin, multiple studies have shown that this process of admixture had an impact in the entire Argentine population. In the present study we characterized the distribution of Indigenous American, European and African ancestry among individuals from different regions of Argentina and evaluated the level of discrepancy between self-reported grandparental origin and genetic ancestry estimates. A set of 99 autosomal ancestry informative markers (AIMs) was genotyped in a sample of 441 Argentine individuals to estimate genetic ancestry. We used non-parametric tests to evaluate statistical significance. The average ancestry for the Argentine sample overall was 65% European (95%CI: 63–68%), 31% Indigenous American (28–33%) and 4% African (3–4%). We observed statistically significant differences in European ancestry across Argentine regions [Buenos Aires province (BA) 76%, 95%CI: 73–79%; Northeast (NEA) 54%, 95%CI: 49–58%; Northwest (NWA) 33%, 95%CI: 21–41%; South 54%, 95%CI: 49–59%; p<0.0001] as well as between the capital and immediate suburbs of Buenos Aires city compared to more distant suburbs [80% (95%CI: 75–86%) versus 68% (95%CI: 58–77%), p = 0.01]. European ancestry among individuals that declared all grandparents born in Europe was 91% (95%CI: 88–94%) compared to 54% (95%CI: 51–57%) among those with no European grandparents (p<0.001). Our results demonstrate the range of variation in genetic ancestry among Argentine individuals from different regions in the country, highlighting the importance of taking this variation into account in genetic association and admixture mapping studies in this population.
Highlights
The current population of Argentina is the result of generations of intermixing between various groups, including Indigenous Americans who originally resided in this part of Southern region (South) America, Spanish conquistadores and Africans brought as slaves starting in the early and late 1500s respectively, and a large European immigrant population that arrived between 1870 and 1950 [1]
Individuals were sampled from four major regions in Argentina (n = 558): 276 individuals from the Buenos Aires province (BA) [173 individuals from the Italiano Hospital, which is private, and from the Clınicas Hospital, which is public, in the city of Buenos Aires; and 103 individuals from the Penna Hospital in Bahıa Blanca]; 117 individuals from the Southern region (South) (66 from the Regional Hospital in Comodoro Rivadavia and 51 from the Zonal Hospital in Esquel); 94 individuals from the Northwest (NWA) (Centro Privado de Hemoterapia of Salta); and 71 individuals from the Northeast of the country (NEA) (Corrientes, Formosa, Chaco and Misiones provinces) who were recruited in Buenos Aires (Figure 1)
Individual genetic ancestry in Argentina The distribution of genetic ancestry among the 441 Argentine individuals included in our study varied from 0 to 100% Indigenous American, 0 to 100% European, and 0 to 35% African ancestry (Figure 1)
Summary
The current population of Argentina is the result of generations of intermixing between various groups, including Indigenous Americans who originally resided in this part of South America, Spanish conquistadores and Africans brought as slaves starting in the early and late 1500s respectively, and a large European immigrant population that arrived between 1870 and 1950 [1]. Further sources of admixture in the Argentina population have been introduced by local migration from the rural areas to the cities (1930–1980), and more recently, by immigration from other South American countries such as Paraguay, Peru and Bolivia (National Institute of Statistics and Census of Argentina (INDEC), 2008) In spite of this rich history of immigration and admixture, most of the Argentine population self-identifies as of European-descent, with only 1% of the total population self-identifying as descendants of an indigenous group (INDEC, 2006). Large comprehensive studies across Argentina’s many regions in order to characterize the genetic admixture have been lacking
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