Researchers are slowly learning about gene variations in Latin America, Africa and Asia, with the hope of diversifying and improving medical treatments.

Hidden within minor genetic variations lie insights into why so many of us succumb to illnesses such as cancer and how our bodies react to their respective medical therapies.

We have 99.9% identical human DNA. — The order of genes, which contains the biological instructions for our functioning and survival, varies by only 0.1% among individuals. This slight difference in human DNA can explain variations in our health outcomes.

A significant amount of study is devoted to genetics and genomics because these disciplines can elucidate how genes are inherited across generations and how our collective set of genes functions. — our genomes — make us more or less prone to contracting an illness.

The issue at hand is that over 80% of genetic research involves participants solely of European ancestry. Consequently, these studies reflect no more than 20% of the global populace. This imbalance is resulting in what certain specialists deem as medical inequity. —or a “gap in genomics”.

An inequity exists within the medical field, particularly in genetics "We have significantly more knowledge about the genetic foundations of diseases in individuals of European descent—whether Europeans or U.S. whites—compared to those from other backgrounds," stated Eduardo Tarazona-Santos, a geneticist affiliated with Universidade Federal de Minas Gerais in Brazil.

Tarazona-Santos has been striving to address this inequality by collecting information on genetic variations between two native groups in Latin America—one residing in the Andean mountains and the other in the Amazon basin.

Published in the journal Cell The research revealed that minor genetic variations led to different reactions to drugs used for treating blood clots and high cholesterol.

The genetic disparities were comparable to those seen between Europeans and East Asians, even though these two populations resided merely 100 to 200 kilometers (60 to 125 miles) away from each other.

"Our research highlights the importance of recognizing that ethnic groups often seen as homogenous, like the indigenous populations of the Americas, are indeed not uniform," Tarazona-Santos stated to Sport.Bangjo.co.id.

Differences in genetics among native communities

Tarazona-Santos' group examined genetic information from 249 people belonging to 17 different indigenous communities. According to study co-author Victor Borda, they also assessed the frequency of genetic variations influencing drug responses.

They discovered variations in two particular genes—ABCG2 and VKORC1—in the genomes of Andean highlanders compared to those from Amazonian lowlanders.

"Genetic variations play a crucial role since the ABCG2 variation affects how well simvastatin, which treats high cholesterol, works. Individuals carrying an unfavorable set of these variations might require alternative medications," explained Borda.

However, they discovered that merely 2% of Andeans require an alternate medication to simvastatin, compared with 14% of Amazonians who would need a different treatment.

The findings further indicated that variations in the VKORC1 gene might affect how patients respond to warfarin, a medication prescribed for treating blood clots and lowering the chances of heart attacks and strokes.

According to Tarazona-Santos, we discovered that 69% of individuals from the Andean region compared to 93% from the Amazonian area would necessitate a reduced dose of warfarin because they possess the VKORC1 genetic variation.

According to Fatumo, a geneticist at Queen Mary University of London in the UK, the study highlighted the importance for geneticists to examine more varied populations.

"There are numerous other communities worldwide similar to [the Andean and Amazonian indigenous peoples] that require comparable study," stated Fatumo.

Precision medicine has the potential to assist Indigenous communities.

Precision medicine employs an individual’s particular health information, such as genetic details, to customize medical treatments according to personal requirements instead of following the traditional “one-size-fits-all” method.

Fatumo noted that it could enable us to provide far more tailored treatments to individuals according to their genetic makeup, as illustrated in studies focusing on medications such as warfarin.

However, up until now, precision medicine utilizing genetic information has primarily benefited individuals of European ancestry. Tarazona aims for this new study to extend precision medicine to those with indigenous heritage within Brazil’s healthcare framework.

Tarazona-Santos suggested that this advancement could enhance therapy for kids suffering from leukemia and prevent negative reactions to medications, as well as improving treatments involving antidepressants and certain heart conditions.

Homogeneous genomic research amounts to 'self-sabotage' in the scientific community.

Fatumo stated that science has inflicted "self-damage" by failing to accelerate diversity in genomic studies: "Numerous additional genetic variations remain undiscovered within different populations. These could aid in discovering novel therapies and understanding why specific medications prove more effective or detrimental for particular individuals compared to others."

However, changes are underway. There are genetic analyses underway In Africa and Asia, along with Latin America, these initiatives frequently form major projects like the Nigerian 100K Genome Project.

Tarazona-Santos' team has embarked on a more extensive project, focusing on sequencing 60,000 Brazilian genomes sourced from various backgrounds.

Global genetics research is starting to yield results. As Fatumo explained to Sport.Bangjo.co.id, "We now have medications that reduce cholesterol levels and prevent heart attacks. The discovery of PCSK9 inhibitors was due to certain individuals with African heritage who possessed genetic variations in the PCSK9 gene, leading to reduced cholesterol." He further noted that numerous additional therapies could potentially be uncovered through the study of genomes from populations worldwide.

Edited by: Zulfikar Abbany

Primary source:

The importance of expanding genomic research: Lessons from Andean highlanders and Amazonians as reported by Alvim et al. in the journal Cell (August 2024). http://dx.doi.org/10.1016/j.cell.2024.07.009

Author: Fred Schwaller