Exploring the genetic heterogeneity of Alzheimer's disease: Evidence for genetic subtypes.

ABSTRACT:

Background

Alzheimer's disease (AD) exhibits considerable phenotypic heterogeneity, suggesting the potential existence of subtypes. AD is under substantial genetic influence, thus identifying systematic variation in genetic risk may provide insights into disease origins.

Objective

We investigated genetic heterogeneity in AD risk through a multi-step analysis.

Methods

We performed principal component analysis (PCA) on AD-associated variants in the UK Biobank (AD cases=2,739, controls=5,478) to assess structured genetic heterogeneity. Subsequently, a biclustering algorithm searched for distinct disease-specific genetic signatures among subsets of cases. Replication tests were conducted using the Alzheimer's Disease Neuroimaging Initiative (ADNI) dataset (AD cases=500, c

SUBMITTER: Elman JA 

PROVIDER: S-EPMC10187457 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature