The phenotypic consequences of genetic divergence between admixed latin american populations: Antioquia and Chocó, Colombia

dc.contributor.authorChande, Aroon T.
dc.contributor.authorRishishwar, Lavanya
dc.contributor.authorBan, Dongjo
dc.contributor.authorNagar, Shashwat D.
dc.contributor.authorConley, Andrew B.
dc.contributor.authorRowell, Jessica
dc.contributor.authorValderrama Aguirre, Augusto E.
dc.contributor.authorMedina Rivas, Miguel A.
dc.contributor.authorJordan, I. King
dc.date.accessioned2025-07-28T20:29:54Z
dc.date.available2025-07-28T20:29:54Z
dc.date.issued2021
dc.description.abstractGenome-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)
dc.identifier.citationChande, 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/EVAA154
dc.identifier.issn17596653
dc.identifier.urihttps://repositorio.usc.edu.co/handle/20.500.12421/7670
dc.language.isoen
dc.subjectDisease
dc.subjectGenetic ancestry
dc.subjectHealth
dc.subjectPolygenic
dc.subjectPopulation genomics
dc.subjectTraits
dc.titleThe phenotypic consequences of genetic divergence between admixed latin american populations: Antioquia and Chocó, Colombia
dc.typeArticle

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