FunGen-AD research identifies cell subtype-specific effects of genetic variation in the Alzheimer’s disease brain

International researchers, including FunGen-AD researcher Philip De Jager, teamed up to explore the effects of genetic variants on expression in specific cell types and subtypes in the brains of older individuals.

Investigators used single-cell transcriptomics and genetic analyses to map the effects of genetic variation on RNA expression for seven major neocortical cell types and 64 cell subtypes. The team also identified a new genetic variant that influences expression of the APOE AD risk gene in microglia cells. Combining these results with genome-wide association studies highlighted the targeted cell type and probable causal gene within AD loci.

This research was partially supported by FunGen-AD grant U01AG072572 and published in Nature Genetics here. You can read more about the research findings at the following link: