Study Reveals Numerous Genetic Risk Factors for Alzheimer’s

Researchers find 42 more regions in the genome linked to the disease

A large international consortium, including DZNE scientists, has identified 42 regions in the human genome whose association with Alzheimer’s disease was previously unknown. The study results have been published in the journal “Nature Genetics”.

In the study, which involved scientists in Europe, the US and Australia, genetic data from more than 111,000 individuals who had Alzheimer’s disease or close relatives with the condition, and more than 670,00 healthy people from a controls group were analyzed. These data were derived from several large cohorts grouped within the European Alzheimer’s Disease DNA BioBank (EADB) consortium.

In total, the scientists identified 75 regions (so-called “loci”) of the genome associated with Alzheimer’s, 42 of which had never previously been implicated in the disease.

“Mutations in this regions are associated with an increased risk for Alzheimer’s”, explains Prof. Alfredo Ramirez, head of the division for Neurogenetics and Molecular Psychiatry at the University Hospital Cologne as well as DZNE researcher. He is one of the senior authors of the current study. “These findings confirm and add to our knowledge of the pathological processes involved in the disease and open up new avenues for therapeutic research. In particular, the results confirm the importance of amyloid peptides and tau proteins in the disease and the role of the brain’s immune cells, the microglia. On the other hand, these findings show for the first time that a protein called TNF-alpha which is implicated in many inflammatory phenomena, is also involved in Alzheimer’s disease. Thus, acting on the signaling pathway of TNF-alpha could be an interesting approach for future interventions.”


Original Publication
New insights into the genetic etiology of Alzheimer’s disease and related dementias.
Nature Genetics (2022).
Céline Bellenguez et al.
DOI: 10.1038/s41588-022-01024-z


April 2022

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