Fig. 1

Population Structure and Genetic Ancestry Composition of Chilean Individuals. (A) Principal Component Analysis (PCA): PCA plot of SNP data showing clustering by superpopulation (AFR: African populations, AMR: American populations, EAS: East Asian populations, EUR: European populations, SAS: South Asian populations). PC1 (47%) and PC2 (26%) capture most of the genetic variation, with Chilean individuals clustering with the Admixed American populations, reflecting their admixed ancestry. (B) Global ancestry proportions of Chilean individuals inferred using ADMIXTURE (K = 3). Three primary ancestry components are identified: European (EUR, green), Amerindian (AMR, orange), and African (AFR, red). Reference populations from 1000 Genomes Project (ASW, TSI, IBS, MXL, PUR, CLM, PEL) were included for comparison. (C) Ancestry Proportions: Boxplots displaying the proportion of European, Amerindian, and African ancestry in the Chilean cohort. The results highlight the predominance of European (x = 58%) and Amerindian(x = 39%) ancestry, with a smaller African (x = 3%) component.