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Summary
This study aims at identifying functional variation in the human genome (especially as it pertains to brain expressed RNAs) and elucidate its relationship to disease and drug response. The ~800 individuals in this dataset are composed of approximately 400 Alzheimers disease (AD) cases, 230 Huntington's Disease (HD) and 170 controls (N) matched for age, gender, and post mortem interval (PMI). The tissue specimens for this study were provided by Harvard Brain Tissue Resource Center (HBTRC). Three brain regions (cerebellum, visual cortex, and dorsolateral prefrontal cortex) from the same individuals were profiled on a custom-made Agilent 44K microarray of 39,280 DNA probes uniquely targeting 37,585 known and predicted genes, including splice variants, miRNAs and high-confidence non-coding RNA sequences. The individuals were genotyped on two different platforms, the Illumina HumanHap650Y array and a custom Perlegen 300K array (a focused panel for detection of singleton SNPs). Clinical outcomes available include age at onset, age at death, Braak scores (AD), Vonsattel scores (HD), Regional brain enlargement/atrophy.
Experiment design
This data packet contains genotypes, clinical traits, as well as expression traits measured in three regions of the brain: visual cortex, cerebellum, prefrontal cortex. Samples were collected from 803 participants including 388 diagnosed with Alzheimer's disease and 220 diagnosed with Huntington's disease. Genotypes were run using two platforms (Illumina and Perlagen). Expression traits were profiled using a custom Agilent platform. Western-IRB has confirmed that this dataset residing in Sage Bionetworks Repository is 'exempt' under federal regulation 45 CFR 46.101(b)4 and does not involve human subject research as defined by OHRP guidelines.
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Acknowledgment
The Harvard Brain dataset was contributed by Merck Pharmaceutical through the Sage Bionetworks Repository. The tissues were provided by Harvard Brain Tissue Resource Center which is supported in part by PHS grant R24 MH068855 (http://www.brainbank.mclean.org/).
Notes
Species: Human
Tissue: Brain visual cortex,Brain cerebellum,Brain prefrontal cortex
Disease: Neurological Disease
Investigator: Francine Benes/ Eric Schadt
Institution: Harvard Brain Tissue Resource Center/ Merck Research Laboratories
Approximate Number Subjects: 803