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GTEx brain tissue expression analysis of MAPT/CRHR1 locus

active
experiment Created: 2026-04-11T00:50:49 By: etl-v1-backfill Quality: 50% ✓ SciDEX ID: exp-b4197a48-56d0-4213-b0b2-0febae275cae
🧫 Experiment Protocol Exploratoryschizophrenia, post-traumatic stress disorderMAPT, CRHR1human brain tissue samples from GTEx databaseproposed
Expression quantitative trait locus (eQTL) analysis using GTEx data to examine the regulatory effects of the rs62062288 variant on MAPT and CRHR1 gene expression across multiple brain tissues. The analysis revealed that MAPT and CRHR1 are highly expressed across multiple brain tissues and that rs62062288 shows opposite regulatory effects on these genes in the caudate basal ganglia, with the PTSD risk allele associated with increased MAPT expression and decreased CRHR1 expression. Additional brain-region-specific eQTL effects on CRHR1 were observed in frontal cortex BA9, hippocampus, and spinal cord, indicating tissue-dependent regulation.
PRIMARY OUTCOME
brain region-specific gene expression regulation by rs62062288 variant
EXPECTED OUTCOMES
Opposite regulatory effects on MAPT and CRHR1 expression, with tissue-specific patterns of regulation
SUCCESS CRITERIA
significant eQTL associations in brain tissues
PROTOCOL
GTEx expression quantitative trait locus analysis examining regulatory effects of rs62062288 on MAPT and CRHR1 expression across multiple brain regions including caudate basal ganglia, frontal cortex BA9, hippocampus, and spinal cord
🧫 Experiment Extras
PATHWAY
tau protein regulation, corticotropin-releasing hormone signaling, brain tissue-specific gene regulation
MARKET PRICE
$0.50
STATUS
proposed
Metadataorigin_type: v1_polymorphic_backfill
origin_typev1_polymorphic_backfill
source_tableexperiments
_schema_version1
📊 Evidence Profile
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