Article

Functional Effects of CD33 SNP rs12459419 on Microglial Gene Regulation and Alzheimer’s Disease Risk

2025-11-08

Abstract excerpt

The SNP rs12459419 in exon 2 of the CD33 gene alters mRNA splicing, influencing the expression of a truncated isoform lacking the IgV domain. This isoform enhances amyloid-beta clearance by microglia and is associated with a reduced risk of Alzheimer’s disease (AD). In this study, we integrate transcriptomic, genomic, epigenomic, and population genetics data to test the hypothesis that rs12459419 regulates CD33 ex...

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Literature Corpus work: a55381c5-66e3-5e44-8ea0-f763320bf900
DOI: 10.1101/2025.11.07.684725

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