Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.

ABSTRACT:

Objective

To investigate the impact of rare variants underlying neurodegenerative-related genes to familial Alzheimer's disease (AD).

Methods

We performed targeted sequencing of 277 neurodegenerative-related genes on probands from 75 Chinese AD families non-carrying causative mutation of dementia genes. Rare coding variants segregated in families were tested for association in an independent cohort of 506 patients with sporadic AD and 498 cognitively normal controls. East Asians data from the Exome Aggregation Consortium (ExAC) were used as a reference control.

Results

A novel rare variant, P410S of PLD3 was found in an early-onset AD family. LRRK2 I2012T, a causative mutation of Parkinson's disease, was identified in another early-onset AD family. Missense variants i

SUBMITTER: Zhang W 

PROVIDER: S-EPMC7545599 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature