Argentines and Chileans share genetic risk of developing Alzheimer’s disease with Europeans

Genetic studies to determine susceptibility to Alzheimer’s diseaseGetty Images

An important step towards understanding the genetic factors contributing to the development of Alzheimer’s disease was the participation of the Ace Alzheimer’s Center in Barcelona in the first Genomic association study (in English “Genome-Wide Association Study” or GWAS), which is carried out in population of Argentina and Chilewhose findings, published in the journal Alzheimer’s and Dementia, show that the two countries have in common genetic risk factors Alzheimer’s disease with European population.

The study involved 14 institutions from Argentina, Chile, Spain and Germany and was led by Dr. Alfredo Ramirezfrom Universidad Colonia as principal investigator, as well as Carolina Dalmasso from the Argentine National Council of Scientific and Technical Research and Itziar de Rojas, a geneticist, bioinformatician and biostatistician from the Ace Alzheimer’s Center in Barcelona.

Genetic testing helps predict risk of developing Alzheimer’s disease

In total it included 539 cases and 854 controls from Argentina and Chile. and used genomic association methods to identify genetic markers associated with disease. These results were then pooled and compared with data from the European Alzheimer’s and Dementia Biobank (EADB) in a meta-analysis, and the performance of the European Genetic Risk Score (GRS) was tested in this Latin American population.

GRS is an assessment that attempts predict the risk of development certain conditions or diseases such as Alzheimer’s disease. In this sense, while the study shows that this measure is valid for identifying genetic risk for Alzheimer’s disease in populations such as Argentina and Chile, it also shows that the tool loses power in people with less European ancestry.

“This finding allows us to assert that the accuracy of GRS varies depending on origin of patients and therefore, it is important to tailor these strategies to this type of population to achieve greater effectiveness in disease prevention. In other words, the more personalized the genetic studies are and the more the patients’ origins are taken into account, the more successful we will be in preventing the disease,” explains Itziar de Rojas, geneticist at the Alzheimer’s Center in Barcelona.

As with other diseases, research into genes associated with Alzheimer’s disease has become widespread in areas such as North America, Asia or Europe. On the other hand, other populations in the world, such as Latin America or Africa, have received little study and therefore lack data to improve diagnosis, prevention and treatment.

In summary, this study makes a significant contribution to the understanding of genetic and ancestral diversity in a region that has been little analyzed to date, and opens the door to advancing translational research and precision medicine. In fact, the identified genetic risk factors are used as the basis for additional research aimed at developing more accurate diagnostic and prognostic tools.

This is about innovative approach which not only contributes to a greater understanding of genetic susceptibility to the disease in these populations, but also paves the way for possible advances in the prevention and treatment of this neurodegenerative disease.

This research also made possible the discovery of four new genes associated with Alzheimer’s disease. A discovery that sheds a little more light on the causes and mechanisms of this increasingly common pathology.

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