The scientists identified 127 regions in human DNA associated with the risk of developing Alzheimer’s disease - 48 of which had not previously been mapped in this context. These findings provide researchers with a deeper understanding of the biological processes that contribute to the onset of the disease and may aid in the development of new therapies.
For this study, the researchers analyzed genetic data from approximately 2.8 million individuals, including 183,620 people with Alzheimer’s. This is the largest genetic association study on Alzheimer’s to date, bringing together data from individuals with diverse genetic backgrounds.
A significant finding is that the results further underscore the role of microglia - immune cells in the brain involved in tasks such as clearing away harmful substances and damaged cellular material.
The team of researchers discovered new genetic evidence for processes related to the activation of these cells, the recruitment of immune cells, and the clearance of material within the brain. In addition, the researchers identified genes linked to other key processes in the brain. For instance, there is evidence of involvement in the processing of amyloid - a protein that can accumulate in the brain in cases of Alzheimer’s - as well as in the repair of nerve cells.
Importantly, the study also reveals new insights beyond the immune system. For the first time, the researchers identified several specific types of neurons that are enriched for genetic signal and may play a key role in the development of Alzheimer’s disease. This opens up new directions for investigating how the disease develops.
These new findings also help researchers more precisely identify which genes and processes warrant further investigation. For instance, they can be used to develop laboratory models that allow scientists to study disease processes in greater detail, as well as to identify potential targets for new medications.
The study was conducted under the umbrella of the International Psychiatric Genomics (PGC) Consortium, whose Alzheimer’s disease working group is co-led by Ole Andreassen and Danielle Posthuma at the Vrije Universiteit Amsterdam.
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