VATIS UPDATE Article

Researchers from the University of California, the United States, have developed a new test that combines the effects of over two dozen gene mutations – which individually lead to only a small increased risk of Alzheimer’s disease and can also better predict who will suffer from dementia or cognitive decline. According to researchers, the method is better than testing only for the well-known genetic variant APOE E4.

The polygenic hazard score (PHS), a test developed by the research team that carried out the new study, provides risk estimates for the remaining 85 to 90 percent of people who do not carry at least one copy of APOE E4 but still have some combination of other genetic variants that put them at risk of Alzheimer’s. The research was published in the journal Annals of Neurology.

The researchers looked at five years of data on 1,081 subjects who did not have dementia, and found the PHS test could predict how long it would take for them to progress to Alzheimer’s dementia, as well as how steep their cognitive decline would be, even after taking into account whether they were carriers of APOE E4. Autopsies of those who did develop Alzheimer’s showed that, even among those who did not carry a copy of the APOE E4 variant, a higher PHS was associated with a higher level of amyloid plaque.