Step by step: towards a better understanding of the genetic architecture of Alzheimer's disease.

ABSTRACT: Alzheimer's disease (AD) is considered to have a large genetic component. Our knowledge of this component has progressed over the last 10 years, thanks notably to the advent of genome-wide association studies and the establishment of large consortia that make it possible to analyze hundreds of thousands of cases and controls. The characterization of dozens of chromosomal regions associated with the risk of developing AD and (in some loci) the causal genes responsible for the observed disease signal has confirmed the involvement of major pathophysiological pathways (such as amyloid precursor protein metabolism) and opened up new perspectives (such as the central role of microglia and inflammation). Furthermore, large-scale sequencing projects are starting to reveal the major impact of rare

SUBMITTER: Lambert JC 

PROVIDER: S-EPMC10615767 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature