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Series GSE53740 Query DataSets for GSE53740
Status Public on Jun 01, 2014
Title An Epigenetic Signature in Peripheral Blood Associated with Neurodegenerative Tauopathy and the Risk-Associated Haplotype on 17q21.31
Organism Homo sapiens
Experiment type Methylation profiling by genome tiling array
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.
Overall design We studied epigenetic changes (DNA methylation levels) in peripheral blood from patients with PSP, FTD, and unaffected controls. Analysis of genome-wide methylation patterns revealed significant differentially methylated probes in patients versus unaffected controls.
Contributor(s) 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
Citation(s) 24603599, 25589773
Submission date Dec 31, 2013
Last update date Mar 22, 2019
Contact name Giovanni Coppola
Phone 310-794-4172
Organization name UCLA
Department Psychiatry and Neurology
Lab Neurogenetics
Street address 1524 Gonda, 695 Charles Young Drive South
City Los Angeles
State/province CA
ZIP/Postal code 90095
Country USA
Platforms (1)
GPL13534 Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482)
Samples (384)
GSM1299650 6229050001_R01C01 (batch1)
GSM1299651 6229050001_R01C02 (batch1)
GSM1299652 6229050001_R02C01 (batch1)
BioProject PRJNA232852

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE53740_RAW.tar 183.1 Mb (http)(custom) TAR
GSE53740_rawSignals_and_detectionPval_batch1.csv.gz 445.4 Mb (ftp)(http) CSV
GSE53740_rawSignals_and_detectionPval_batch2.csv.gz 488.2 Mb (ftp)(http) CSV
Processed data included within Sample table

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