You are here

{Polygenic burden of short tandem repeat expansions promote risk for Alzheimer's disease

Title{Polygenic burden of short tandem repeat expansions promote risk for Alzheimer's disease
Publication TypeJournal Article
Year of Publication2023
AuthorsGuo, MH, Lee, WP, Vardarajan, B, Schellenberg, GD, Phillips-Cremins, J
JournalmedRxiv
Date PublishedNov
Abstract30 STR expansions had 3.62-fold higher odds of having AD and had more severe AD neuropathology. AD STR expansions were highly enriched within active promoters in post-mortem hippocampal brain tissues and particularly within SINE-VNTR-Alu (SVA) retrotransposons. Together, these results demonstrate that expanded STRs within active promoter regions of the genome promote risk of AD.
ePub date: 
23/11