Identification of region-specific splicing QTLs in human hippocampal tissue and its distinctive role in brain disorders.

ABSTRACT: Alternative splicing (AS) regulation has an essential role in complex diseases. However, the AS profiles in the hippocampal (HIPPO) region of human brain are underexplored. Here, we investigated cis-acting sQTLs of HIPPO region in 264 samples and identified thousands of significant sQTLs. By enrichment analysis and functional characterization of these sQTLs, we found that the HIPPO sQTLs were enriched among histone-marked regions, transcription factors binding sites, RNA binding proteins sites, and brain disorders-associated loci. Comparative analyses with the dorsolateral prefrontal cortex revealed the importance of AS regulation in HIPPO (r_g = 0.87). Furthermore, we performed a transcriptome-wide association study of Alzheimer's disease and identified 16 significant gen

SUBMITTER: Li X 

PROVIDER: S-EPMC10558811 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature