Chande, Aroon T.Rishishwar, LavanyaBan, DongjoNagar, Shashwat D.Conley, Andrew B.Rowell, JessicaValderrama Aguirre, Augusto E.Medina Rivas, Miguel A.Jordan, I. King2025-07-282025-07-282021Chande, A. T., Rishishwar, L., Ban, D., Nagar, S. D., Conley, A. B., Rowell, J., Valderrama-Aguirre, A. E., Medina-Rivas, M. A., & Jordan, I. K. (2021). The phenotypic consequences of genetic divergence between admixed latin american populations: Antioquia and Chocó, Colombia. Genome Biology and Evolution, 12(9), 1516–1527. https://doi.org/10.1093/GBE/EVAA15417596653https://repositorio.usc.edu.co/handle/20.500.12421/7670Genome-wide association studies have uncovered thousands of genetic variants that are associated with a wide variety of human traits. b Knowledge of howtrait-associated variants are distributed within and between populations can provide insight into the genetic basis of a group-specific phenotypic differences, particularly for health-related traits. We analyzed the genetic divergence levels for 1) individual i trait-associated variants and 2) collections of variants that function together to encode polygenic traits, between two neighboring 1 populations in Colombia that have distinct demographic profiles: Antioquia (Mestizo)and Choco (Afro-Colombian). Genetic ancestry 9 analysis showed 62% European, 32% Native American, and 6% African ancestry for Antioquia compared with 76% African, 10% 5 European, and 14% Native American ancestry for Choco, consistent with demography and previous results. Ancestry differences can g confound cross-population comparison of polygenic risk scores (PRS); however, we did not find any systematic bias in PRS distributions 7 for the two populations studied here, and population-specific differences in PRS were, for the most part, small and symmetrically 1 distributed around zero. Both genetic differentiation at individual trait-associated single nucleotide polymorphisms and population- b specific PRS differences between Antioquia and Choco largely reflected anthropometric phenotypic differences that can be readily g observed between the populations along with reported disease prevalence differences. Cases where population-specific differences in $ genetic risk did not align with observed trait (disease) prevalence point to the importance of environmental contributions to phenotypic g variance, for both infectious and complex, common disease. The results reported here are distributed via a web-based platform for 3 searching trait-associated variants and PRS divergence levels at http://map.chocogen.com (last accessed August 12, 2020)enDiseaseGenetic ancestryHealthPolygenicPopulation genomicsTraitsThe phenotypic consequences of genetic divergence between admixed latin american populations: Antioquia and Chocó, ColombiaArticle