Exploratory experiment designed to discover new patterns targeting DACT1, DAAM1, KCNJ3, KLHDC4, SLC10A7, PPP4R2 in postmortem human brain tissue - Korean ancestry. Primary outcome: cell type-specific gene expression patterns
Integration of GWAS results with ancestry-matched Korean single-nucleus RNA sequencing data from postmortem brain tissue to provide cell type-specific functional annotations of identified genetic loci. This analysis aimed to link genetic variants to gene expression patterns in specific brain cell types, particularly focusing on oligodendrocytes where DACT1 was implicated as a key regulatory mediator of pTau217. The integration also included differential gene expression data from the ROSMAP cohort to further validate findings.
Single-nucleus RNA sequencing, integration with GWAS results, cell type annotation, differential expression analysis
Cell type-specific annotation of GWAS loci, identification of regulatory mechanisms in relevant brain cell types
significant association between genetic variants and cell type-specific gene expression
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