Genetic Diversity and Demographic History of Ecuadorian Kichwa Peoples: From Population Genetics to Evolutionary Genomics

Background: Ecuadorian Kichwa peoples inhabit diverse Andean and Amazonian regions, yet evidence remains uneven in geographic coverage, molecular resolution, population definition, and documentation of historical sampling. We evaluated the scope, evolution, population representation, and provenance of genetic and genomic research involving Ecuadorian Kichwa populations. Methods: We reviewed primary studies available up to the reported final search date of 28 August 2026, using PubMed/MEDLINE and supplementary discovery. Twenty-four reports were mapped by population, molecular platform, and sample provenance. Because the record-level search export was unavailable, full PRISMA identification and screening counts could not be independently reconstructed. Results: Twenty-four eligible reports were organized into 22 operational study families based on documented report-level links. Six eligible primary reports involving Fabricio González-Andrade were verified by the author as authentic and correctly reported. Evidence progressed from forensic short tandem repeats and uniparental markers to ancestry-informative variants, genome-wide data, whole-genome sequencing, functional and pharmacogenetic analyses, and epigenomics. Population representation was uneven, and population-resolved studies demonstrated genetic heterogeneity among Andean and Amazonian Kichwa groups. Publications, recruited cohorts, molecular datasets and individuals are different analytical units; matching denominators alone do not prove biological overlap. Available evidence does not discriminate formally among competing demographic models. Conclusions: Genetic research on Ecuadorian Kichwa populations has advanced in molecular resolution but remains unevenly distributed. These findings inform priorities for equitable genomic research in Ecuador, intercultural health and pharmacogenomic evidence generation, ethically governed biobanking, and community-led representation of under-sampled peoples. Transparent cohort provenance and directly dated ancient DNA are needed before resolving regional demographic hypotheses.