Massive Study of 2.8 Million People Reveals New Secrets of Alzheimer’s Disease
New genetic regions identified
The international team identified 127 regions of human DNA associated with Alzheimer’s risk. Forty-eight had not previously been mapped in this context, giving researchers a more detailed view of the biology involved.
The study drew on data from 30 research groups, whose combined contributions helped reveal associations that smaller studies might have missed. The collaboration included academic researchers, biobanks and industry through the International Psychiatric Genomics Consortium.
Signals in brain cell types
The findings point to roles for the brain’s immune cells as well as several kinds of nerve cells. Researchers found that genetic signals associated with Alzheimer’s were enriched in particular types of neurons, which receive and transmit information.
Research lead Danielle Posthuma of Vrije Universiteit Amsterdam said the results connect new genetic risk factors with more specific biological processes and point to brain cell types beyond the immune system. The findings could help guide further investigations into the disease’s development.
Research leads, not treatments
The genetic associations are starting points for further study, not evidence that acting on a particular gene will lead to an effective treatment. Researchers still need to establish which associations have a causal role in Alzheimer’s.
Further work must also assess whether intervening in the relevant processes would be safe and meaningfully beneficial. Posthuma and Ole Andreassen of the University of Oslo co-lead the consortium’s Alzheimer’s disease working group.
Key points
- The analysis identified 127 DNA regions associated with Alzheimer’s risk, including 48 not previously mapped in this context.
- Genetic signals were enriched in several specific types of neurons, as well as pointing to immune processes.
- Data pooled from 30 research groups helped uncover associations that smaller studies might have missed.
- The findings are research leads; more work is needed to test causality, safety and potential benefit.