2024-01-06 04:45:50
One of the most challenging scientific searches of recent decades is the possibility of identifying genes that can be directly linked to complex diseases. In this path, genome-wide association studies, better known as GWAS, are one of the most used tools since they allow the presence of hereditary genetic variants to be related to the risk of suffering from a certain disease.
Recently, an international team of scientists, made up of several Argentines, released the first GWAS study for Alzheimer’s disease in South American populations. This pioneering study allowed us to validate previous findings obtained in the European population and suggests four new genetic variants possibly involved in the development of the main cause of dementia in old age.
“In our region it is not easy to manage multicenter studies that involve patients and control cases,” Laura Morelli, CONICET researcher in the Brain Aging and Neurodegeneration Laboratory of the Leloir Institute Foundation (FIL), told the CyTA-Leloir Agency, and one of the co-authors of the study that analyzed some 1,500 samples from Chile and Argentina. “Although the number of participants is not large enough to determine with certainty new genes associated with Alzheimer’s in so-called mixed populations like ours (those that do not have a single ancestral origin, but are characterized by the mixture of ethnicities with diverse genetic background), it did serve to validate the findings obtained in the European population, where some 500,000 people have been studied,” Morelli added.
Now, the new genetic variants that the study suggests are involved in the development of the disease must be confirmed in research with a larger number of participants, the expert added.
Laura Morelli, CONICET researcher at the Leloir Institute Foundation, was one of the supervisors of the international study. (Photo: Leloir Institute Foundation / CONICET)
Alzheimer’s is a progressive neurodegenerative disease of which the precise causes are unknown. Although factors related to lifestyle (such as an inadequate diet, excessive sedentary lifestyle or smoking) influence the risk of developing it, between 60% and 80% of cases have a genetic basis. The GWAS studies and the meta-analyses developed from them have already identified more than 80 genetic variants that predispose to the disease, but the truth is that most of these investigations were carried out in European and Asian populations.
“Unfortunately, large international initiatives have focused their research on European ancestry, limiting the generalization of genetic findings to other populations. To begin to fill this gap, we present the first study that helps elucidate the genetics of Alzheimer’s in the South American population, which has been little studied,” highlight the authors of the study. They also state that a larger initiative will seek to increase the size of the sample analyzed in Latin America.
“Until now, it was not known whether a risk predictor for Alzheimer’s developed in Europe with data from the Caucasian population could be useful in mixed populations like ours. With the study that we have just published it was seen that yes, although as the percentage of Amerindian ancestry increases, the predictive capacity decreases,” specified Morelli, who concluded: “Genetic research in Latin American populations helps to improve the definition of profiles personalized risk assessments that can account for the individual risk of progressing to dementia. And although there is still no immediate clinical application, it is likely that these types of initiatives will improve the possibilities of personalized early intervention to prevent or postpone dementia in the future.
The main author of the new study is the doctor in Molecular Biology and Biotechnology María Carolina Dalmasso, from the Executing Unit of Studies in Neurosciences and Complex Systems (ENyS) of CONICET, El Cruce Hospital and the Arturo Jauretche National University (UNAJ), in Florencio Varela. But 22 other Argentine scientists also participate, as well as researchers from Chile, Spain, Germany and France.
The study is titled “The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer’s disease.” And it has been published in the journal Alzheimer’s & Dementia. (Source: CyTA-Leloir Agency)
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