Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development

DISCUSSION: Downstream analyses of these novel loci highlight synaptic function, in contrast to common AD-associated variants, which implicate innate immunity and amyloid processing. These loci have not been associated previously with AD, emphasizing the ability of WGS to identify AD-associated rare variants, particularly outside of the exome.PMID:33797837 | DOI:10.1002/alz.12319

Source: The Journal of Alzheimers Association - April 2, 2021 Category: Psychiatry Authors: Dmitry Prokopenko Sarah L Morgan Kristina Mullin Oliver Hofmann Brad Chapman Rory Kirchner Alzheimer's Disease Neuroimaging Initiative (ADNI) Sandeep Amberkar Inken Wohlers Christoph Lange Winston Hide Lars Bertram Rudolph E Tanzi Source Type: research