A team of researchers from the University of Edinburgh in Scotland, the University of Queensland in Australia and the Icahn School of Medicine at Mount Sinai in the US have used big data to identify three new genes linked to the risk of Alzheimer’s disease.

According to their paper published in the journal Translational Psychiatry, the international team of researchers believe that their findings can help doctors and fellow medical researchers better understand the mechanisms underlying Alzheimer’s and improve treatments for the disease.

“New genetic discoveries can provide vital clues to the biological processes involved in Alzheimer’s, but our genetic makeup is not the only factor that affects our risk of the disease,” said Dr Riccardo Marioni from the University of Edinburgh’s Centre for Genomics and Experimental Medicine.

“We are now working to combine genetic data and information about people’s lifestyle to produce more comprehensive and personalised picture of Alzheimer’s risk. Understanding how genetic and lifestyle factors interact to affect our overall risk could lead to more targeted risk reduction strategies and pave the way to precision medicine in Alzheimer’s disease,” continued Dr Marioni.

To determine the genetic risk factors for Alzheimer’s, researchers typically compare the DNA code of people with and without the disease. By analysing big data from large groups of people, researchers can identify gene variations that are more common in people who have Alzheimer’s. To date this approach has identified around 30 genes that are associated with Alzheimer’s risk.

In the new study, the researchers combined results from an existing genetic study involving 70,000 people with and without Alzheimer’s disease, as well as genetic information from over 300,000 people from the UK Biobank, a health resource that aims to improve the prevention, diagnosis and treatment of a wide range of serious and life-threatening illnesses, including Alzheimer’s. UK Biobank is following the health and well-being of 500,000 volunteer participants and provides health information, which does not identify them, to approved researchers from academia and industry.

Because many of the participants were too young so show any Alzheimer’s symptoms, the research team looked to medical information about their parents, many of whom had developed the disease.

Even if a parent has Alzheimer’s it doesn’t mean that their child is at a higher risk of developing the disease. However, by combining data from the thousands of participants whose parents developed Alzheimer’s, the researchers were able to sift out genetic information relevant to the disease.

“By focusing on people with a family history of Alzheimer’s, we have been able to take advantage of a wealth of existing data to gain new insights into the genetics of the disease,” said Prof Peter Visscher from the University of Queensland’s Institute for Molecular Bioscience.

“One challenge of this method is that we rely on people to provide accurate information about whether their parents developed Alzheimer’s, and in some cases the disease can be mistaken for another form of dementia or go undiagnosed,” continued Prof Visscher.

“This innovative research highlights three new genes linked to the risk of Alzheimer’s disease and presents promising leads for future research. The next step will be for molecular scientists to assess how these genes might contribute to the development of Alzheimer’s and fit in to the existing picture of the disease. Interestingly, two of these genes are targeted by drugs that are used to treat other conditions, signalling a potential direction for research into new Alzheimer’s treatments,” said Head of Research at Alzheimer’s Research UK, Dr Sara Imarisio.

“Dr Marioni is unlocking the power of big data by applying cutting-edge statistical techniques to rich medical, genetic and lifestyle information provided by hundreds of thousands of research volunteers,” concluded Dr Imarisio.

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