GTEx brain tissue expression analysis of MAPT/CRHR1 locus

Exploratory Score: 0.850 Price: $0.50 schizophrenia, post-traumatic stress disorder human brain tissue samples from GTEx database Status: proposed

What This Experiment Tests

Exploratory experiment designed to discover new patterns targeting MAPT, CRHR1 in human brain tissue samples from GTEx database. Primary outcome: brain region-specific gene expression regulation by rs62062288 variant

Description

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.

TARGET GENE
MAPT, CRHR1
MODEL SYSTEM
human brain tissue samples from GTEx database
ESTIMATED COST
$0
TIMELINE
0 months
PATHWAY
tau protein regulation, corticotropin-releasing hormone signaling, brain tissue-specific gene regulation
SOURCE
extracted_from_pmid_41767305
PRIMARY OUTCOME
brain region-specific gene expression regulation by rs62062288 variant

Scoring Dimensions

Info Gain 0.00 (25%) Feasibility 0.00 (20%) Hyp Coverage 0.00 (20%) Cost Effect. 0.00 (15%) Novelty 0.00 (10%) Ethical Safety 0.00 (10%) 0.850 composite

📖 Wiki Pages

MAPT ProteinproteinMAPT (Microtubule-Associated Protein Tau) GenegeneCRHR1geneMAPT — Microtubule Associated Protein Tau Gene EntgeneMAPT-Mutant NeuronscellMAPT→Tau→Aggregation→PSP Causal ChainmechanismMAPT Haplotypes (H1/H2)geneMAPT Mutation Penetrance and Phenotypic Modifiers gapmapt-variantsdiseasePost-Traumatic Stress DisorderdiseaseHippocampusbrainHypothalamic-Pituitary-Adrenal AxismechanismGlucocorticoid Signaling Pathway in NeurodegeneratmechanismUrocortin 2 (UCN2) NeuronscellParaventricular Nucleus in Stress Responsecell

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

Expected Outcomes

Opposite regulatory effects on MAPT and CRHR1 expression, with tissue-specific patterns of regulation

Success Criteria

significant eQTL associations in brain tissues

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