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A comparison of genetic data from all over the world specifies many general as well as a population-specific genetic predispositions for the neurogenerative disease Alzheimer’s. The results can lead to more precise and inclusive treatment options / publication in ‘Nature Genetics’
A new international study coordinated by the European Alzheimer’s and Dementia Biobank (EADB) consortium sheds light on how genetic risk factors for Alzheimer’s disease (AD) vary – and remain consistent – across global populations. The study represents the first worldwide examination of polygenic risk scores (PRS) and their relationship to the likelihood of developing Alzheimer’s disease. The PRS is a value that gauges a person’s estimated genetic predisposition for certain illnesses. The researchers analyzed data from populations in Europe, Asia, Africa, North America, South America and Australia. At the University of Cologne, Professor Dr Dr Alfredo Ramirez and his team at the Clinic and Polyclinic for Psychiatry and Psychotherapy’s Division of Neurogenetics (University Hospital Cologne) as well as the CECAD Cluster of Excellence for Aging Research were involved in the research findings.
One of the key findings is the identification of two distinct genetic signatures for the more common, complex forms of Alzheimer’s disease. One is primarily driven by a single genetic factor, apolipoprotein E (APOE), while the other involves the combination and interaction of approximately 75 additional genetic variants. The study found that this latter pattern is largely consistent across global populations, suggesting a shared biological mechanism behind a significant portion of AD risk worldwide. The paper ‘Transferability of European-derived Alzheimer’s disease polygenic risk scores across multiancestry populations’ has appeared in Nature Genetics.
For more than eight years, Professor Ramirez and his team in Cologne have been dedicated to investigating Alzheimer’s genetics in historically understudied populations, particularly in Latin America. As one of the Principal Investigators and a member of the EADB steering committee, Ramirez leads the consortium’s efforts to explore genetic diversity in Alzheimer’s. This work has already led to key discoveries published in scientific journals, highlighting findings specific to Latin American cohorts.
As countries grow more genetically diverse, understanding which risk factors are shared across populations – and which are population-specific – is critical. This research marks a major step toward precision medicine, where disease prevention and treatment strategies can be tailored to the genetic makeup of individuals and populations alike.
To create the PRS, researchers used the summary statistics data from the latest Genome-Wide Association Study (GWAS) on Alzheimer’s disease (2022 publication in Nature Genetics). The summary statistics contains a genome-wide list of genetic variants linked to the disease and how strongly each one contributes to risk. Individuals were then grouped into Alzheimer’s cases and healthy controls to assess how well the PRS distinguishes between them.
The current publication found that the impact of the APOE gene varies significantly between populations, in contrast to the PRS containing the other 75 genetic variants that are shared as genetic risk factors for AD worldwide. This variability in APOE is likely due to currently undescribed genetic differences within the genomic region containing the APOE gene, suggesting that this gene plays a central role in the differing prevalence and risk levels seen across ethnic and regional groups.
Importantly, the study also found that polygenic risk scores are specific to Alzheimer’s disease rather than dementia more broadly, across all populations studied. This specificity underscores the need for accurate clinical diagnosis and points to the potential of PRS as a tool for improving clinical trials. By identifying individuals at high genetic risk for Alzheimer’s, while excluding those with potential diagnostic uncertainty, researchers can improve the precision and outcomes of therapeutic studies.
Alfredo Ramirez said: “In a time when immigration and diversity are increasingly politicized, this study underscores the importance of inclusive science. Presently, most of this research has focused on individuals of European ancestry living in industrialized countries, raising critical concerns about generalizability and equity in understudied populations from low- and middle-income countries with different ethnicities. In our study, we demonstrate how global collaboration and attention to genetic diversity not only enhance scientific understanding but also promote health equity and integration. This research sends the message that the pursuit of better health through science must reflect and serve all people, regardless of their background.”
In conclusion, by comparing and analyzing the genetic components of Alzheimer’s disease across the world, this study enhances scientists’ understanding of the disease’s underlying biology and opens the door to more inclusive, effective and targeted treatment strategies. The authors see it as a major step forward in the global fight against Alzheimer’s disease.
Professor Dr Dr Alfredo Ramirez
Clinic and Polyclinic of Psychiatry and Psychotherapy & CECAD Cologne Cluster of Excellence in Aging Research
+49 221 478 98041
alfredo.ramirez-zuniga@uk-koeln.de
https://www.nature.com/articles/s41588-025-02227-w
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