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The Impact of Ethnicity and Genetic Ancestry on Disease Prevalence and Risk in Colombia
Currently, the vast majority of genomic research cohorts are made up of participants with European ancestry. Genomic medicine will only reach its full potential when genomic studies become more broadly representative of global populations. We are working to support the establishment of genomic medic...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8507149/ https://www.ncbi.nlm.nih.gov/pubmed/34650589 http://dx.doi.org/10.3389/fgene.2021.690366 |
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author | Chande, Aroon T. Nagar, Shashwat Deepali Rishishwar, Lavanya Mariño-Ramírez, Leonardo Medina-Rivas, Miguel A. Valderrama-Aguirre, Augusto E. Jordan, I. King Gallo, Juan Esteban |
author_facet | Chande, Aroon T. Nagar, Shashwat Deepali Rishishwar, Lavanya Mariño-Ramírez, Leonardo Medina-Rivas, Miguel A. Valderrama-Aguirre, Augusto E. Jordan, I. King Gallo, Juan Esteban |
author_sort | Chande, Aroon T. |
collection | PubMed |
description | Currently, the vast majority of genomic research cohorts are made up of participants with European ancestry. Genomic medicine will only reach its full potential when genomic studies become more broadly representative of global populations. We are working to support the establishment of genomic medicine in developing countries in Latin America via studies of ethnically and ancestrally diverse Colombian populations. The goal of this study was to analyze the effect of ethnicity and genetic ancestry on observed disease prevalence and predicted disease risk in Colombia. Population distributions of Colombia’s three major ethnic groups – Mestizo, Afro-Colombian, and Indigenous – were compared to disease prevalence and socioeconomic indicators. Indigenous and Mestizo ethnicity show the highest correlations with disease prevalence, whereas the effect of Afro-Colombian ethnicity is substantially lower. Mestizo ethnicity is mostly negatively correlated with six high-impact health conditions and positively correlated with seven of eight common cancers; Indigenous ethnicity shows the opposite effect. Malaria prevalence in particular is strongly correlated with ethnicity. Disease prevalence co-varies across geographic regions, consistent with the regional distribution of ethnic groups. Ethnicity is also correlated with regional variation in human development, partially explaining the observed differences in disease prevalence. Patterns of genetic ancestry and admixture for a cohort of 624 individuals from Medellín were compared to disease risk inferred via polygenic risk scores (PRS). African genetic ancestry is most strongly correlated with predicted disease risk, whereas European and Native American ancestry show weaker effects. African ancestry is mostly positively correlated with disease risk, and European ancestry is mostly negatively correlated. The relationships between ethnicity and disease prevalence do not show an overall correspondence with the relationships between ancestry and disease risk. We discuss possible reasons for the divergent health effects of ethnicity and ancestry as well as the implication of our results for the development of precision medicine in Colombia. |
format | Online Article Text |
id | pubmed-8507149 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-85071492021-10-13 The Impact of Ethnicity and Genetic Ancestry on Disease Prevalence and Risk in Colombia Chande, Aroon T. Nagar, Shashwat Deepali Rishishwar, Lavanya Mariño-Ramírez, Leonardo Medina-Rivas, Miguel A. Valderrama-Aguirre, Augusto E. Jordan, I. King Gallo, Juan Esteban Front Genet Genetics Currently, the vast majority of genomic research cohorts are made up of participants with European ancestry. Genomic medicine will only reach its full potential when genomic studies become more broadly representative of global populations. We are working to support the establishment of genomic medicine in developing countries in Latin America via studies of ethnically and ancestrally diverse Colombian populations. The goal of this study was to analyze the effect of ethnicity and genetic ancestry on observed disease prevalence and predicted disease risk in Colombia. Population distributions of Colombia’s three major ethnic groups – Mestizo, Afro-Colombian, and Indigenous – were compared to disease prevalence and socioeconomic indicators. Indigenous and Mestizo ethnicity show the highest correlations with disease prevalence, whereas the effect of Afro-Colombian ethnicity is substantially lower. Mestizo ethnicity is mostly negatively correlated with six high-impact health conditions and positively correlated with seven of eight common cancers; Indigenous ethnicity shows the opposite effect. Malaria prevalence in particular is strongly correlated with ethnicity. Disease prevalence co-varies across geographic regions, consistent with the regional distribution of ethnic groups. Ethnicity is also correlated with regional variation in human development, partially explaining the observed differences in disease prevalence. Patterns of genetic ancestry and admixture for a cohort of 624 individuals from Medellín were compared to disease risk inferred via polygenic risk scores (PRS). African genetic ancestry is most strongly correlated with predicted disease risk, whereas European and Native American ancestry show weaker effects. African ancestry is mostly positively correlated with disease risk, and European ancestry is mostly negatively correlated. The relationships between ethnicity and disease prevalence do not show an overall correspondence with the relationships between ancestry and disease risk. We discuss possible reasons for the divergent health effects of ethnicity and ancestry as well as the implication of our results for the development of precision medicine in Colombia. Frontiers Media S.A. 2021-09-17 /pmc/articles/PMC8507149/ /pubmed/34650589 http://dx.doi.org/10.3389/fgene.2021.690366 Text en Copyright © 2021 Chande, Nagar, Rishishwar, Mariño-Ramírez, Medina-Rivas, Valderrama-Aguirre, Jordan and Gallo. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Chande, Aroon T. Nagar, Shashwat Deepali Rishishwar, Lavanya Mariño-Ramírez, Leonardo Medina-Rivas, Miguel A. Valderrama-Aguirre, Augusto E. Jordan, I. King Gallo, Juan Esteban The Impact of Ethnicity and Genetic Ancestry on Disease Prevalence and Risk in Colombia |
title | The Impact of Ethnicity and Genetic Ancestry on Disease Prevalence and Risk in Colombia |
title_full | The Impact of Ethnicity and Genetic Ancestry on Disease Prevalence and Risk in Colombia |
title_fullStr | The Impact of Ethnicity and Genetic Ancestry on Disease Prevalence and Risk in Colombia |
title_full_unstemmed | The Impact of Ethnicity and Genetic Ancestry on Disease Prevalence and Risk in Colombia |
title_short | The Impact of Ethnicity and Genetic Ancestry on Disease Prevalence and Risk in Colombia |
title_sort | impact of ethnicity and genetic ancestry on disease prevalence and risk in colombia |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8507149/ https://www.ncbi.nlm.nih.gov/pubmed/34650589 http://dx.doi.org/10.3389/fgene.2021.690366 |
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