TREM2 variant p. R47H as a risk factor for sporadic amyotrophic lateral sclerosis
J Cady, ED Koval, BA Benitez, C Zaidman… - JAMA …, 2014 - jamanetwork.com
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 geneTREM2was 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)
inTREM2is a risk factor for ALS and assess whetherTREM2expression is dysregulated in …
which microglia play a significant and active role. Recently, a rare missense variant (p.
R47H) in the microglial activating geneTREM2was 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)
inTREM2is a risk factor for ALS and assess whetherTREM2expression is dysregulated in …