Genome-wide association studies have identified loci associated with neurodegenerative disease risk, but many of the implicated genetic variants are noncoding and their functional roles remain unclear. Using massively parallel reporter assays, CRISPR-based validation and genomic annotations, a new study functionally characterizes regulatory risk variants associated with Alzheimer disease and progressive supranuclear palsy.
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Oatman, S.R., Ertekin-Taner, N. Dementia risk variants — hunting needles in a haystack. Nat Rev Neurol 18, 705–706 (2022). https://doi.org/10.1038/s41582-022-00739-1
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DOI: https://doi.org/10.1038/s41582-022-00739-1
