R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.

ABSTRACT:

Importance

The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2), a modulator of the immune response of microglia, is a strong genetic risk factor for Alzheimer disease (AD) and possibly other neurodegenerative disorders.

Objective

To investigate a large family with late-onset AD (LOAD), in which R47H cosegregated with 75% of cases.

Design, setting, and participants

This study includes genetic and pathologic studies of families with LOAD from 1985 to 2014. A total of 131 families with LOAD (751 individuals) were included from the University of Washington Alzheimer Disease Research Center. To identify LOAD genes/risk factors in the LOAD123 family with 21 affected members and 12 autopsies, we sequenced 4 exomes. Candidate variants were te

SUBMITTER: Korvatska O 

PROVIDER: S-EPMC4825672 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature