Open AccessGenomic mechanisms in Alzheimer's disease
Author(s) -
Bertram Lars,
Tanzi Rudolph E.
Publication year - 2020
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/bpa.12882
Subject(s) - genomics , disease , genome wide association study , biology , genetic association , alzheimer's disease , genetics , bioinformatics , computational biology , neuroscience , genome , medicine , single nucleotide polymorphism , genotype , pathology , gene
Alzheimer's disease (AD) is the most common neurodegenerative disease and, owing to its increasing prevalence, represents one of the leading public health problems in aging populations. The molecular causes underlying the onset and progression of AD are manifold and hitherto still incompletely understood. Research over nearly four decades has clearly delineated genetics to play a crucial role in AD susceptibility, likely in concert with non‐genetic factors. The field has gained considerable momentum and novel insights over the past 10 years owing to the advent and application of high‐throughput genomics technologies in datasets of increasing size. In this contribution to the Mini‐Symposium on the Molecular Etiology of Alzheimer's Disease, we review the current status of genomics research in AD. To this end, we scrutinize and discuss the main findings from the two largest and most current genome‐wide association studies (GWAS) in the field, that is, the papers published by Jansen et al (Nat Genet 51:404–413) and Kunkle et al (Nat Genet 51:414–430). Particular focus is laid on genomics findings overlapping across both studies and on the novel insights they provide in terms of improving our understanding of the “genomic mechanisms” underlying this devastating disease.