Genetic make up and structure of Colombian populations by means of uniparental and biparental DNA markers

TLDR

Colombia’s geographic heterogeneity and historical patterns of African and European immigration have produced one of Latin America’s most genetically diverse populations. The study assessed ancestry in more than 1,700 individuals from 24 Colombian populations using autosomal, X‑chromosome, mitochondrial DNA, and Y‑chromosome markers. Results show marked regional variation in autosomal ancestry and a pattern of admixture dominated by Native American women with European and African men, underscoring the country’s extensive genetic diversity.

Abstract

Colombia is a country with great geographic heterogeneity and marked regional differences in pre-Columbian native population density and in the extent of past African and European immigration. As a result, Colombia has one of the most diverse populations in Latin America. Here we evaluated ancestry in over 1,700 individuals from 24 Colombian populations using biparental (autosomal and X-Chromosome), maternal (mtDNA), and paternal (Y-chromosome) markers. Autosomal ancestry varies markedly both within and between regions, confirming the great genetic diversity of the Colombian population. The X-chromosome, mtDNA, and Y-chromosome data indicate that there is a pattern across regions indicative of admixture involving predominantly Native American women and European and African men.