Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

ABSTRACT:

Introduction

Analysis of sequence data in high-risk pedigrees is a powerful approach to detect rare predisposition variants.

Methods

Rare, shared candidate predisposition variants were identified from exome sequencing 19 Alzheimer's disease (AD)-affected cousin pairs selected from high-risk pedigrees. Variants were further prioritized by risk association in various external datasets. Candidate variants emerging from these analyses were tested for co-segregation to additional affected relatives of the original sequenced pedigree members.

Results

AD-affected high-risk cousin pairs contained 564 shared rare variants. Eleven variants spanning 10 genes were prioritized in external datasets: rs201665195 (ABCA7), and rs28933981 (TTR) were previously implicated in AD patholog

SUBMITTER: Teerlink CC 

PROVIDER: S-EPMC9291865 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature