Frequency of the TREM2 R47H Variant in Various Neurodegenerative Disorders.

ABSTRACT:

Objective

A rare variant in TREM2 (p.R47H, rs75932628) has been consistently reported to increase the risk for Alzheimer disease (AD), while mixed evidence has been reported for association of the variant with other neurodegenerative diseases. Here, we investigated the frequency of the R47H variant in a diverse and well-characterized multicenter neurodegenerative disease cohort.

Methods

We examined the frequency of the R47H variant in a diverse neurodegenerative disease cohort, including a total of 3058 patients clinically diagnosed with AD, frontotemporal dementia spectrum syndromes, mild cognitive impairment, progressive supranuclear palsy syndrome, corticobasal syndrome, or amyotrophic lateral sclerosis and 5089 control subjects.

Results

We observed a significant a

SUBMITTER: Ayer AH 

PROVIDER: S-EPMC7050643 | biostudies-literature | 2019 Oct-Dec

REPOSITORIES: biostudies-literature