Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies.

ABSTRACT: Microglia have emerged as important players in brain aging and pathology. To understand how genetic risk for neurological and psychiatric disorders is related to microglial function, large transcriptome studies are essential. Here we describe the transcriptome analysis of 255 primary human microglial samples isolated at autopsy from multiple brain regions of 100 individuals. We performed systematic analyses to investigate various aspects of microglial heterogeneities, including brain region and aging. We mapped expression and splicing quantitative trait loci and showed that many neurological disease susceptibility loci are mediated through gene expression or splicing in microglia. Fine-mapping of these loci nominated candidate causal variants that are within microglia-specific enhancers, f

SUBMITTER: Lopes KP 

PROVIDER: S-EPMC9245609 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature