IMR Press / FBL / Volume 22 / Issue 1 / DOI: 10.2741/4480

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with Frontiers in Bioscience.


Molecular mechanisms of the genetic risk factors in pathogenesis of Alzheimer disease

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1 Laboratory of Neuropathology and Neuroscience, Graduate School of Pharmaceutical Sciences, The University of Tokyo, Japan

Academic Editor: Naoyuki Sato

Front. Biosci. (Landmark Ed) 2017, 22(1), 180–192;
Published: 1 January 2017
(This article belongs to the Special Issue Alzheimers disease: its genetic and non-genetic risk factors)

Alzheimer disease (AD) is a neurodegenerative disease characterized by the extensive deposition of senile plaques and neurofibrillary tangles. Until recently, only the APOE gene had been known as a genetic risk factor for late-onset AD (LOAD), which accounts for more than 95% of all AD cases. However, in addition to this well-established genetic risk factor, genome-wide association studies have identified several single nucleotide polymorphisms as genetic risk factors of LOAD, such as PICALM and BIN1. In addition, whole genome sequencing and exome sequencing have identified rare variants associated with LOAD, including TREM2. We review the recent findings related to the molecular mechanisms by which these genetic risk factors contribute to AD, and our perspectives regarding the etiology of AD for the development of therapeutic agents.

Alzheimer disease
Genetic Risk Factor
Immune System
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