Research reveals new non-coding genetic variants associated with Alzheimer's disease functioning in microglia -- brain cells already implicated in the progression of this often-fatal neurodegenerative condition.
Li and her colleagues started from 37 genetic loci associated with AD to prioritize risk variants and their residing potential functional regions -- termed candidate cis-regulatory regions -- in microglia, they performed a process called fine-mapping. One locus at a time, they studied the associated variants with a special consideration of epigenetic signatures and 3D genome interaction annotations indicating their likelihood of functioning in microglia.
of these variants are affecting the microglia. Sometimes, one variant may affect the expression of multiple genes in the neighborhood."Additionally, each region could contain several AD-associated genetic variants. Researchers then needed to pinpoint which variants are causal among the many that were identified through genetic analysis. Such precision is crucial for understanding the mechanisms by which non-coding variants contribute to the development of AD.
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