Clinical genetic variation across Hispanic populations in the Mexican Biobank

Genetic testing for specific alleles is often recommended based on an individual's ancestry. However, the frequency of pathogenic and pharmacogenomic alleles across different Hispanic groups has not been well characterized, and existing guidelines often fail to recognize the geographic and ancestral diversity within these populations. Here analyzing data from 6,011 individuals from the nationwide Mexican Biobank, we show that Mexican individuals have striking regional differences in biomedically relevant allele frequencies, shaped both by their overall admixture proportions, but also by the local Indigenous ancestral groups contributing to their genome (for example, Nahua in central Mexico, Zapotec in the South or Maya in the Yucatan peninsula). We found ancestry-specific patterns with clinical implications that could not have been detected without a local ancestry-informed approach, including variants affecting fentanyl (rs2242480) and statin (rs4149056) metabolism, examples particularly relevant to the epidemiology of Hispanic populations. This analysis framework could inform genetic testing guidelines across the Americas. We are making available the results for 42,769 biomedically relevant genotyped variants through MexVar, a user-friendly platform designed to improve access to genomic data for the scientific community and support genetic analyses for populations of Mexican descent worldwide.

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Publication Details

Journal
Nature Medicine
Published
2026-01-21
DOI
https://doi.org/10.1038/s41591-025-04100-z
Citations
2
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
61.86
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article

Clinical genetic variation across Hispanic populations in the Mexican Biobank

María De Jesús Ortega-Estrada, Carmina Barberena-Jonas, Oscar J Velázquez-Monroy, Viankail Cedillo-Castelán et al.
2 citations
Nature Medicine
Genetic Associations and Epidemiology
61.86
article

Clinical genetic variation across Hispanic populations in the Mexican Biobank

María De Jesús Ortega-Estrada, Carmina Barberena-Jonas, Oscar J Velázquez-Monroy, Viankail Cedillo-Castelán, Manuel Velazquez-Meza, Roberto Tapia‐Conyer, Pablo Antonio Kuri-Morales, Leticia Ferreyra-Reyes, Rosario Rodríguez-Guillén, Eduardo Lazcano‐Ponce, JOSÉ LUIS VALDESPINO-GÓMEZ, Norma Mongua-Rodríguez, Elizabeth Ferreira-Guerrero, Mashaal Sohail, Guadalupe Delgado-Sánchez, Elsa J. Sarti-Gutiérrez, María Teresa Tusié-Luna, Luis Pablo Cruz-Herbet, María José Palma-Martínez, Luis Juárez-Figueroa, Tania Sepúlveda-Morales, Juan Eugenio Hernández-Avila, Alexander G. Ioannidis, Andrés Moreno-Estrada, Jaime Sepúlveda-Amor, Cecilia Gutiérrez-López, Carlos Magis-Rodríguez, Hortensia Moreno-Macías, Carlos Aguilar-Salinas, Consuelo Dayzú Quinto-Cortés, María Luisa Ordóñez-Sánchez, Alicia Huerta-Chagoya, Sergio Canizales-Quintero, Karla Sandoval, Norma Téllez-Vázquez, Santiago G. Medina-Muñoz, Claudia Gonzaga-Jáuregui
article en
2 citations

Abstract

Genetic testing for specific alleles is often recommended based on an individual's ancestry. However, the frequency of pathogenic and pharmacogenomic alleles across different Hispanic groups has not been well characterized, and existing guidelines often fail to recognize the geographic and ancestral diversity within these populations. Here analyzing data from 6,011 individuals from the nationwide Mexican Biobank, we show that Mexican individuals have striking regional differences in biomedically relevant allele frequencies, shaped both by their overall admixture proportions, but also by the local Indigenous ancestral groups contributing to their genome (for example, Nahua in central Mexico, Zapotec in the South or Maya in the Yucatan peninsula). We found ancestry-specific patterns with clinical implications that could not have been detected without a local ancestry-informed approach, including variants affecting fentanyl (rs2242480) and statin (rs4149056) metabolism, examples particularly relevant to the epidemiology of Hispanic populations. This analysis framework could inform genetic testing guidelines across the Americas. We are making available the results for 42,769 biomedically relevant genotyped variants through MexVar, a user-friendly platform designed to improve access to genomic data for the scientific community and support genetic analyses for populations of Mexican descent worldwide.

Nature MedicineVol. 32(2)
University of California, Santa Cruz (US), Secretaria de Salud (MX), Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (MX), Instituto Nacional de Salud Pública (MX), Instituto Politécnico Nacional (MX), Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (MX), Universidad Nacional Autónoma de México (MX), Stanford University (US)
Good health and well-being
Openalex Percentile: Top 0%
Genetic Associations and Epidemiology
61.86
DOIOpen Access PDFOpenAlex
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