Title | {Polygenic burden of short tandem repeat expansions promote risk for Alzheimer's disease |
Publication Type | Journal Article |
Year of Publication | 2023 |
Authors | Guo, MH, Lee, WP, Vardarajan, B, Schellenberg, GD, Phillips-Cremins, J |
Journal | medRxiv |
Date Published | Nov |
Abstract | 30 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. |