Faculty, Staff and Student Publications
Publication Date
8-1-2023
Journal
Neurobiology of Disease
DOI
10.1016/j.nbd.2023.106209
PMID
37354922
Abstract
Alzheimer's disease (AD) is a common neurodegenerative disease in aging individuals. Alternative splicing is reported to be relevant to AD development while their roles in etiology of AD remain largely elusive. We performed a comprehensive splicing transcriptome-wide association study (spTWAS) using intronic excision expression genetic prediction models of 12 brain tissues developed through three modelling strategies, to identify candidate susceptibility splicing introns for AD risk. A total of 111,326 (46,828 proxy) cases and 677,663 controls of European ancestry were studied. We identified 343 associations of 233 splicing introns (143 genes) with AD risk after Bonferroni correction (0.05/136,884 = 3.65 × 10
Keywords
Humans, Alzheimer Disease, Transcriptome, Neurodegenerative Diseases, Genetic Predisposition to Disease, RNA Splicing, Polymorphism, Single Nucleotide, Repressor Proteins, Kruppel-Like Transcription Factors, Cell Adhesion Molecules, Alzheimer's disease, Splicing introns, Susceptibility genes, Transcriptome-wide association study
Published Open-Access
yes
Recommended Citation
Sun, Yanfa; Bae, Ye Eun; Zhu, Jingjing; et al., "A Splicing Transcriptome-Wide Association Study Identifies Novel Altered Splicing for Alzheimer’s Disease Susceptibility" (2023). Faculty, Staff and Student Publications. 5155.
https://digitalcommons.library.tmc.edu/uthgsbs_docs/5155
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