Open AccessExome Sequencing of Extended Families with Alzheimer’s Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function
Author(s) -
Holly N. Cukier,
Kunkle Bk,
Hamilton Kl,
Sophie Rolati,
Kohli Ma,
Whitehead Pl,
James Jaworski,
Vance Jm,
Cuccaro Ml,
RM Carney,
Frédéric Gilbert,
Lindsay A. Farrer,
Martin Er,
Beecham Gw,
Haines Jl,
M. A. PericakVance
Publication year - 2017
Publication title -
journal of alzheimer's disease and parkinsonism
Language(s) - English
Resource type - Journals
ISSN - 2161-0460
DOI - 10.4172/2161-0460.1000355
Subject(s) - exome sequencing , biology , trem2 , genetics , psen1 , gene , nonsynonymous substitution , exome , genetic linkage , loss function , candidate gene , disease , alzheimer's disease , mutation , genome , phenotype , presenilin , medicine , receptor , myeloid cells , pathology
Alzheimer's disease (AD) is a neurodegenerative disorder for which more than 20 genetic loci have been implicated to date. However, studies demonstrate not all genetic factors have been identified. Therefore, in this study we seek to identify additional rare variants and novel genes potentially contributing to AD.