AI unlocks new genetic variants for Alzheimer's

CSIRO Discovery Centre

Thursday, 14 December, 2023

AI unlocks new genetic variants for Alzheimer's

Two new genetic variants associated with Alzheimer’s disease have been uncovered through the use of artificial intelligence.

CSIRO research scientists at the Australian e-Health Centre used the tools VariantSpark and BitEpi to identify the variants. They also found 95 new gene interactions that may modulate the effects of variants in Alzheimer’s.

Identification of variants helps to predict the occurrence, severity and potential treatments of the neurodegenerative disease.

However, the identified variants alone do not account for all heritability of Alzheimer’s and other neurodegenerative disease. Interactions between variants, known as epistasis, are thought to contribute to the onset and expression of disease.

Up until now, variants were measured only according to their cumulative effect. That is, how one gene in combination with another increases the likelihood or expression of the disease.

CSIRO Research Scientist and senior author on the paper published in Scientific Reports Dr Natalie Twine said some interactions between genes can protect against Alzheimer’s.

“By using BitEpi we can identify these interactions and explain some of the missing links in Alzheimer’s heritability,” she said.

Alzheimer’s disease is the most predominant form of dementia. In 2022 there were over 400,000 people living in Australia with dementia, and with the growing and aging population, rates are predicted to double by 2058.

Lead author on the paper CSIRO postdoctoral fellow Dr Mischa Lundberg said by incorporating significant epistatic interactions, it was possible to capture 10.41% more phenotypic variance than past methods.

“This means an increase in our ability to capture the drivers of disease, which is important for Alzheimer’s research because by knowing underlying drivers, we can identify at-risk patients sooner, and intervene earlier,” Lundberg said.

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