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| EWAS ID | EWAS275 |
| GSE ID | GSE53740 |
| EWAS Title | An Epigenetic Signature in Peripheral Blood Associated with Neurodegenerative Tauopathy and the Risk-Associated Haplotype on 17q21.31 |
| Disease/Phenotype | dementia |
| Group1 | frontotemporal dementia (FTD) |
| Group2 | Progressive supranuclear palsy (PSP) |
| Group1 Sample Size | 128 |
| Group2 Sample Size | 43 |
| Summary | Progressive supranuclear palsy (PSP) and frontotemporal dementia (FTD) are two neurodegenerative diseases linked, at the pathologic and genetic level, to the macrutubule associated protein tau. We identified and replicated a dose-dependent effect of the risk-associated H1 haplotype on methylation levels within the region in independent datasets in blood and brain. These data reveal that the H1 haplotype increases risk for tauopathy via differential methylation, indicating a mediating role for methylation in dementia pathophysiology. |
| Contributor | Li Y, Chen JA, Sears RL, Gao F, Klein ED, Karydas A, Geschwind MD, Rosen HJ, Boxer AL, Guo W, Pellegrini M, Horvath S, Miller BL, Geschwind DH, Coppola G |
| Public date | Public on Jun 01, 2014 |
| Citation (PubMed ID) | 24603599, 25589773 |
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