TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis.

ABSTRACT:

Importance

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which microglia play a significant and active role. Recently, a rare missense variant (p.R47H) in the microglial activating gene TREM2 was found to increase the risk of several neurodegenerative diseases, including Alzheimer disease. Whether the p.R47H variant is a risk factor for ALS is not known.

Objectives

To determine whether p.R47H (rs75932628) in TREM2 is a risk factor for ALS and assess whether TREM2 expression is dysregulated in disease.

Design, setting, and participants

Samples of DNA from 923 individuals with sporadic ALS and 1854 healthy control individuals self-reported as non-Hispanic white were collected from ALS clinics in the United States and genotyped for the p.R47

SUBMITTER: Cady J 

PROVIDER: S-EPMC4087113 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature