To identify the ancestral genomic components of Chilean population is the aim of this research. This allows to discover the genetic basis of diseases and also to understand the demographic history of the Chilean population. To do this, the descent from 313 individuals across the whole-continental country was estimated, analyzing each of the approximately 700,000 genetic variants of their DNA called “single nucleotide polymorphisms” (SNPs) or single nucleotide. polymorphisms.DNA study shows the ancestral contribution of the European, Amerindian and African populations to the admixed Chileans and how their proportions vary geographically. For example, African ancestral proportion is higher in the north of Chile than in the central or south territory. This is because the Africans came mainly from Peru in colonial times. On the other hand, most European ancestral proportion agglutinate in the central region due to the greater historical concentration of inhabitants and to the percentage of European immigration to those regions.
In addition, it was confirmed that the mix European/Amerindian of the Chilean population has a higher proportion of European men and higher proportion of Amerindian women. This is observed in the X and Y chromosomes, and due to the fact that the first European immigrants to America were mostly male. .
Another contribution of this study is the finding of frequency of variants that differentiate Chileans from other populations. Some of the genetic variants that differ in frequency with respect to other populations are associated with a certain disease, or that involves a greater or lesser susceptibility to this condition. In Chile, the population has a high frequency of a genetic variant that confers protection against cholera disease which, as a whole, makes us more resistant to this infection.
*Genetic structure characterization of Chileans reflects historical immigration patterns. Susana Eyheramendy, Felipe I. Martinez, Federico Manevy, Cecilia Vial & Gabriela M. Repetto. Nature Communications 6, Article number: 6472 doi: 10.1038/ncomms7472