Probability of Alzheimer's disease based on common and rare genetic variants.

ABSTRACT:

Background

Alzheimer's disease, among other neurodegenerative disorders, spans decades in individuals' life and exhibits complex progression, symptoms and pathophysiology. Early diagnosis is essential for disease prevention and therapeutic intervention. Genetics may help identify individuals at high risk. As thousands of genetic variants may contribute to the genetic risk of Alzheimer's disease, the polygenic risk score (PRS) approach has been shown to be useful for disease risk prediction. The APOE-ε4 allele is a known common variant associated with high risk to AD, but also associated with earlier onset. Rare variants usually have higher effect sizes than common ones; their impact may not be well captured by the PRS. Instead of standardised PRS, we propose to calculate the diseas

SUBMITTER: Escott-Price V 

PROVIDER: S-EPMC8369699 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature