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CD33: increased inclusion of exon 2 implicates the Ig V-set domain in Alzheimer’s disease susceptibility
Open accessAbstract
We previously demonstrated that the Alzheimer's disease (AD) associated risk allele, rs3865444(C), results in a higher surface density of CD33 on monocytes. Here, we find alternative splicing of exon 2 to be the primary mechanism of the genetically driven differential expression of CD33 protein. We report that the risk allele, rs3865444(C), is associated with greater cell surface expression of CD33 in both subjects of European and African-American ancestry and that there is a single haplotype influencing CD33 surface expression. A meta-analysis of the two populations narrowed the number of significant SNPs in high linkage disequilibrium (LD) (r(2) > 0.8) with rs3865444 to just five putative causal variants associated with increased protein expression. Using gene expression data from flow-sorted CD14(+)CD16(-) monocytes from 398 healthy subjects of three populations, we show that the rs3865444(C) risk allele is strongly associated with greater expression of CD33 exon 2 (pMETA = 2.36 × 10(-60)). Western blotting confirms increased protein expression of the full-length CD33 isoform containing exon 2 relative to the rs3865444(C) allele (P < 0.0001). Of the variants in strong LD with rs3865444, rs12459419, which is located in a putative SRSF2 splice site of exon 2, is the most likely candidate to mediate the altered alternative splicing of CD33's Immunoglobulin V-set domain 2 and ultimately influence AD susceptibility.
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“In addition, it is becoming increasingly clear that genetic risk can also be mediated through mRNA splicing28,29.”
From Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies (2022) · cites this paper as [29]
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“For instance, the CD33 locus in AD influences CD33 splicing, resulting in isoforms with different biological and likely pathological functions29.”
From Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies (2022) · cites this paper as [29]
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“The protective SNP alters CD33 mRNA splicing such that the extracellular sialic acid–binding domain is lost from the final protein (Malik et al., 2013, 2015; Raj et al., 2014).”
From Microglia in Alzheimer’s disease (2018) · cites this paper as Raj et al., 2014
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Metadata
- Authors
- Raj, T., Ryan, K. J., Replogle, J. M., Chibnik, L. B., Rosenkrantz, L., Tang, A., Rothamel, K., Stranger, B. E., Bennett, D. A., Evans, D. A., De Jager, P. L., & Bradshaw, E. M.
- Affiliations
- Broad Institute (US)
- Brigham and Women's Hospital (US)
- University of Chicago (US)
- Rush University Medical Center (US)
- Corresponding author
- Bradshaw, E. M.
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2013-12-30
- Volume
- 23
- Issue
- 10
- Pages
- 2729-2736
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC3990171
- OpenAlex
- W2161428211
- Cited by
- 144
- References
- 27
- Citations by year
- 2026: 3 · 2025: 7 · 2024: 13 · 2023: 10 · 2022: 18 · 2021: 20 · 2020: 18 · 2019: 13 · 2018: 9 · 2017: 9 · 2016: 9 · 2015: 7 · 2014: 8
- FWCI
- 5.56
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Human Molecular Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- National Institute on Aging (R01AG017917, P30-AG 10161, K25AG041906, R01AG030146, R01 AG30146, R01‐AG17917, R01 AG15819, R01AG11101, R01AG011101, R01AG043617, R01AG015819, P30AG010161, F32AG043267, R01AG031553)
- National Institute of General Medical Sciences (RC2GM093080)
- National Institute of Neurological Disorders and Stroke (R01NS067305)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- CD33, Alzheimer's disease, alternative splicing, exon 2, monocytes, cell surface expression, haplotypes, linkage disequilibrium, SRSF2, genetic susceptibility, CD14+CD16+ monocytes
- MeSH terms
- Alzheimer Disease, Black or African American, Exons, Humans, Linkage Disequilibrium, Case-Control Studies, Alternative Splicing, Sequence Analysis, DNA, Protein Structure, Tertiary, Genetic Predisposition to Disease, Protein Isoforms, Polymorphism, Single Nucleotide, White People, Genetic Association Studies, Sialic Acid Binding Ig-like Lectin 3
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