Researchers have developed a new genetic assessment which allows individuals to calculate their age-specific risk of developing Alzheimer’s disease in the future.
Understanding the genetic risks for Alzheimer’s disease is extremely important and this series of research assessments, published in the Journal PLOS one, has integrated an epidemiological framework to assess this risk.
The research team looked at the genetic data of more than 70,000 people, some with known Alzheimer’s disease and others which were considered control samples (or people without known Alzheimer’s disease). From this the researchers could derive what they called an ‘instantaneous risk estimate for developing dementia”.
“We combined genetic data from large, independent cohorts of patients with AD with epidemiological estimates to create the scoring, then replicated our findings on an independent sample and validated them with known biomarkers of Alzheimer’s pathology,” said Dr Rahul Desikan, from the University of California, San Francisco.
The data analysed was scrutinised by the research teams looking at the genomic information available to them. Based on this they could develop a continuous polygenic hazard score (known as PHS). While this may not mean much, they found the people in the top PHS quartile had developed Alzheimer’s disease at a considerably lower age and had the highest yearly Alzheimer’s disease incidence rate.
Based on this type on information, the researchers could strongly predict PHS with an empirical age a person may develop Alzheimer’s disease.
Do the researchers plan on using this tool in a clinical setting? At this point the answer is no, as more research is needed. However, the researchers do believe that with thorough validation and quantification of inherited genetic variation may prove useful for stratifying Alzheimer’s disease risk and as an enrichment strategy for treatment trials in the future.
You can read more about the genetics of dementia on the Alzheimer’s Australia website.