42 new Alzheimer’s risk genes discovered in major study

04 April 2022

Today (Monday 4 April) researchers announce they have found 42 new risk genes for Alzheimer’s disease. In total, the new international study identified 75 genes that were associated with an increased risk of developing Alzheimer’s, with 42 of these not previously linked to the condition. The science journal Nature Genetics published the findings of the largest study of its kind.

What problem did the scientists try to solve?

Alzheimer’s is a disease that affects over 600,000 people in the UK today.

For most, developing Alzheimer’s disease isn’t set in stone and it’s certainly not a natural part of getting older. Someone’s risk of developing Alzheimer’s is a complex mix of age, genetics, and lifestyle factors, and these often interlink.

Genes are the instruction manual for life and someone’s genetic makeup varies from person to person. Certain small errors in genes can increase someone’s risk of getting Alzheimer’s and scientists in this study are working to better understand how this is the case.

So, what did the scientists do?

In this project, researchers collaborated with hundreds of colleagues internationally involving eight partner countries. Researchers at the UK Dementia Research Institute (UK DRI) in Cardiff, co-founded and co-funded by Alzheimer’s Research UK, led the UK arm of the study.

Using an approach known as ‘genome-wide association studies’ they analysed genetic make-up of over 100,000 people with Alzheimer’s disease in detail. They compared this with information on 600,000 healthy people.

What did they find?

Researchers found genes already known to be involved in the development of Alzheimer’s disease. Including genes implicating hallmark proteins in the diseases called amyloid and tau.

The work also gave further compelling evidence to support a role for inflammation and the immune system in the disease.

Using the data, the researchers were able to create risk scores associated with the risk of future Alzheimer’s disease that were more powerful than previous methods.

Our expert’s opinion on the research and why it’s important

Dr Susan Kohlhaas, Director of Research at Alzheimer’s Research UK said:
“Genes are the instruction manual for life, the code for producing proteins that govern our biology. Certain gene variations can pre-dispose someone to disease, including Alzheimer’s, however they aren’t the only factor, with age and other lifestyle factors accounting for some of the risk.

“Previous genetic discoveries underpin much of our current understanding of Alzheimer’s disease and the direction of research into new treatments. Creating an extensive list of Alzheimer’s disease risk genes is like having the edge pieces of a puzzle put together, and while this work doesn’t give us the full picture, it provides a valuable framework for future developments.

“Using this genomic wide sequencing approach, researchers were able to uncover more evidence that the immune system plays a pivotal role in the development of Alzheimer’s, which gives us clues about the pathways that might be most important to look at in our search for new treatments.  The research also, however, tells us just how complex Alzheimer’s is, with several different mechanisms implicated in the development of the disease.

“It’s going to take a concerted and global effort to develop life-changing treatments, but this seminal study also gives us hope that research will win, and it gives us the opportunity to work on new treatment targets.

“Well-conducted collaborative efforts like this, including researchers at the UK Dementia Research Institute, underline the positive impact that investment in dementia research in the UK can deliver. Alzheimer’s Research UK are proud to have co-founded the UK DRI and must thank the dedication of our supporters across the UK for making this work possible.”

Want to find out more about genes and dementia?

Visit our health information at https://alzheimersresearchuk.org/dementia-information/genes-and-dementia/ or ring the Dementia Research Infoline on 0300 111 5111

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