Genetic variations of have been implicated as a susceptibility factor of Alzheimer's disease (AD). A polymorphism on exon 2 of , rs12459419, affects the alternative splicing of this exon. The minor allele is associated with a reduced risk of AD and promotes the skipping of exon 2 to produce a shorter CD33 isoform lacking the extracellular ligand-binding domain, leading to decreased suppressive signaling on microglial activity.
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