Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.

ABSTRACT:

Background

Many families with clinical early-onset Alzheimer's disease (EOAD) remain genetically unexplained. A combination of genetic factors is not standardly investigated. In addition to monogenic causes, we evaluated the possible polygenic architecture in a large series of families, to assess if genetic testing of familial EOAD could be expanded.

Methods

Thirty-six pedigrees (77 patients) were ascertained from a larger cohort of patients, with relationships determined by genetic data (exome sequencing data and/or SNP arrays). All families included at least one AD patient with symptom onset <70 years. We evaluated segregating rare variants in known dementia-related genes, and other genes or variants if shared by multiple families. APOE was genotyped and duplications in AP

SUBMITTER: Mol MO 

PROVIDER: S-EPMC9158156 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature