CD33: increased inclusion of exon 2 implicates the Ig V-set domain in Alzheimer's disease susceptibility

• Published in: Human molecular genetics Vol. 23; no. 10; pp. 2729 - 2736
• Main Authors: Raj, Towfique, Ryan, Katie J., Replogle, Joseph M., Chibnik, Lori B., Rosenkrantz, Laura, Tang, Anna, Rothamel, Katie, Stranger, Barbara E., Bennett, David A., Evans, Denis A., De Jager, Philip L., Bradshaw, Elizabeth M.
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 15.05.2014
• Subjects: Alternative Splicing; Alzheimer Disease - genetics; Black or African American; Case-Control Studies; Exons; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Linkage Disequilibrium; Polymorphism, Single Nucleotide; Protein Isoforms - genetics; Protein Isoforms - metabolism; Protein Structure, Tertiary; Sequence Analysis, DNA; Sialic Acid Binding Ig-like Lectin 3 - genetics; Sialic Acid Binding Ig-like Lectin 3 - metabolism; White People

We previously demonstrated that the Alzheimer's disease (AD) associated risk allele, rs3865444C, 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....