The Mexican Biobank is a collaborative initiative involving Mexico’s National Laboratory of Genomics for Biodiversity at CINVESTAV, the National Institute of Public Health, the National Institute of Medical Sciences & Nutrition, the University of Oxford, and Stanford University. Supported by the Newton Fund and Mexico’s Science Council, this project seeks to uncover the interplay among genetics, migration, mating patterns, and the environment that have influenced the present diversity within the Mexican population.
In 2017, Dr. Andrés Moreno Estrada, leading an international research team at the Advanced Genomics Unit (UGA-Langebio) of Cinvestav-Mexico, genetically characterized the DNA profiles of over 6,000 individuals representing the thirty-two states in the country.
After half a decade, the efforts invested in this project have culminated in the establishment of the Mexican Biobank. It stands as the inaugural comprehensive genomic database, encompassing 1.8 million genetic markers derived from residents across approximately 900 locales. The outcomes of this endeavor have recently been featured in Nature magazine. Notably, this study represents the inaugural attempt to survey the entire national expanse, positioning it as a pivotal resource for biomedical and population-centric investigations in both Mexico and Latin America.
Dr. Estrada said: “Currently, more than 95% of participants in genetic medical association studies worldwide are of European ancestry, which limits knowledge of the human genome of other populations in the world. It is urgent to correct this bias so that the promises of genomic and precision medicine are more equitable throughout the world, including Mexico.”
In the year 2000, genetic materials for analysis were obtained from the National Health Survey (ENSA) carried out by INSP. A total of more than 40,000 adults took part, and 6,000 samples underwent DNA analysis. This initiative offers distinctive perspectives on disease risks among Mexicans. Importantly, due to the diverse amalgamation of genetic ancestries and cultural outcomes present in Mexico today, the findings may have significant implications for other global ancestries that have played a role in shaping today’s Mexico.
The researchers aimed to achieve a comprehensive understanding of all the regions and ancestral backgrounds within the country. They prioritized individuals belonging to indigenous communities to ensure a representation of the pre-Hispanic roots of the population. This emphasis on indigenous communities was driven by the desire to better understand the genetic makeup of people with ancestral ties to the Americas, which, until now, has been least genetically characterized worldwide.
New insights into the regional and state-based structure of ancestry have been revealed through data analysis for the first time. The study also highlights that populations with higher indigenous ancestry tend to exhibit lower genetic variation. The information from the Mexico Biobank is accessible via the European Genome-phenome Archive repository.
Dr. Estrada said: “The genetic characterization of this biobank constitutes an important contribution to closing the gap in the disparity of data from underrepresented populations and puts Mexico on the world map of large-scale genomic studies.”
In their comprehensive study of the Mexican Biobank, the researchers expanded upon prior investigations into genetic data from various “indigenous” and “cosmopolitan” groups throughout Mexico. By utilizing the Mexican Biobank’s extensive nationwide sampling approach, they were able to identify a pronounced genetic distinction, particularly in the case of the Mayan region when compared to other cultural regions. This emphasized the remarkable genetic diversity existing not only in the Mayan region but also across other regions in Mexico.
Dr. Alexander Mentzer, Group Leader at NDM’s Wellcome Centre for Human Genetics and co-author of the study, said: “This flagship study will help to inform future genetic and epidemiological work as well as public health interventions. The database is also being used for genetic association analysis combining or meta-analysing the Mexican Biobank with other disease cohorts. We are also conducting further work to understand how best to predict trait or disease predisposition in Mexico, and the role of archaic introgression in trait variation and disease predisposition.”