The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis.

ABSTRACT:

Objective

The rs12608932 single nucleotide polymorphism in UNC13A is associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) susceptibility, and may underlie differences in treatment response. We aimed to characterize the clinical, cognitive, behavioral, and neuroimaging phenotype of UNC13A in patients with ALS.

Methods

We included 2,216 patients with ALS without a C9orf72 mutation to identify clinical characteristics associated with the UNC13A polymorphism. A subcohort of 428 patients with ALS was used to study cognitive and behavioral profiles, and 375 patients to study neuroimaging characteristics. Associations were analyzed under an additive genetic model.

Results

Genotyping rs12608932 resulted in 854 A/A, 988 A/C, and 374 C/C genotyp

SUBMITTER: Tan HHG 

PROVIDER: S-EPMC7540607 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature