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A study, done as a part of a joint venture between Mexico’s Cinvestav UGA-Langebio and NDM’s Wellcome Centre for Human Genetics, has revealed an enormously rich tapestry of genetics revealing population histories and diverse genetic make-up of the Mexican population.

The Mexican Biobank is a joint project between Mexico’s National Laboratory of Genomics for Biodiversity from CINVESTAV, the National Institute of Public Health, the National Institute of Medical Sciences & Nutrition, the University of Oxford and Stanford University, with support from the Newton Fund and Mexico's Science Council. It aims to reveal the interplay between genetics, migration, mating patterns and the environment that has shaped the current diversity of the Mexican population. 

In 2017, an international research group, led by Dr Andrés Moreno Estrada from the Advanced Genomics Unit (UGA-Langebio) of Cinvestav-Mexico, genetically characterized the DNA profile of more than 6,000 individuals belonging to the 32 states of the country. 

Five years later, the fruits of this work have given rise to the Mexican Biobank, the first nationwide genomic database with 1.8 million genetic markers belonging to the inhabitants of around 900 locations, the results of which have now been published in Nature magazine. This is the first study to cover the entire national territory, which is why it seeks to be a fundamental tool for biomedical and population-based research in 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 2000, genetic materials for characterization were sourced from the National Health Survey (ENSA) conducted by INSP. Over 40,000 adults participated, and 6,000 samples were selected for DNA analysis, balancing resources and national representation. This provides unique insights into disease risk for Mexicans, but importantly, because it is such a diverse melting pot of genetic ancestries and result cultures, it could have enormous implications for other ancestries around the world who have contributed to today’s Mexico. 

The researchers tried to obtain a balanced vision of all the regions and ancestry of the country, giving priority to individuals identified as part of an indigenous community, with the intention of representing the pre-Hispanic roots of the population as much as possible, since the information of Ancestry originating from America is the one that, until now, has been least genetically characterized worldwide. 

Based on the data obtained how ancestry is structured by regions and states is shown for the first time. The population with greater indigenous ancestry was also observed to present less genetic variation. The information from the Mexico Biobank is available through 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. 

Through this flagship analysis of the Mexican Biobank, the researchers built on previous work studying genetic data from “indigenous” and “cosmopolitan” groups across Mexico. With the nationwide sampling strategy of the Mexican Biobank, they observed genetic structure most clearly separating the Mayan region from the other cultural regions, and highlighting the genetic diversity present within this and other regions.  

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. 

Read the full paper here: https://www.nature.com/articles/s41586-023-06560-0

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