ArticleAMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science2018
Genetic variation affecting exon skipping contributes to brain structural atrophy in Alzheimer's disease.
Article in AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.
- Human leukocyte antigen (HLA) class I and II genetic relationships with brain imaging measures: A systematic review and meta-analysis.Brain, behavior, and immunity · 2025Pooled it
- GWAS of Tau-Neurodegeneration Mismatch Identifies New Risk Loci for Susceptibility to Tau.CNS neuroscience & therapeutics · 2026Article
- Polygenic risk score predicts pathologically confirmed cerebral amyloid angiopathy.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- NADScience advances · 2025Article
- TDP-43 toxic gain of function links ALS, FTD and Alzheimer's Disease through splicing dysregulation.bioRxiv : the preprint server for biology · 2025Article
- CYP1B1-RMDN2 Alzheimer's disease endophenotype locus identified for cerebral tau PET.Nature communications · 2024Article
- Immunity geneAlzheimer's & dementia (Amsterdam, Netherlands) · 2022Article
- Dysregulated expression levels of APH1B in peripheral blood are associated with brain atrophy and amyloid-β deposition in Alzheimer's disease.Alzheimer's research & therapy · 2021Article
- Predictability of polygenic risk score for progression to dementia and its interaction with APOE ε4 in mild cognitive impairment.Translational neurodegeneration · 2021Article
- Single-Cell RNA Sequencing of Peripheral Blood Reveals Immune Cell Signatures in Alzheimer's Disease.Frontiers in immunology · 2021Article
- Association of blood-based transcriptional risk scores with biomarkers for Alzheimer disease.Neurology. Genetics · 2020Article
- Dysregulated Fc gamma receptor-mediated phagocytosis pathway in Alzheimer's disease: network-based gene expression analysis.Neurobiology of aging · 2020Article
- Integrate GWAS, eQTL, and mQTL Data to Identify Alzheimer's Disease-Related Genes.Frontiers in genetics · 2019Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Genetic variation in cis-regulatory elements related to splicing machinery and splicing regulatory elements (SREs) results in exon skipping and undesired protein products. We developed a splicing decision model to identify actionable loci among common SNPs for gene regulation. The splicing decision model identified SNPs affecting exon skipping by analyzing sequence-driven alternative splicing (AS) models and by scanning the genome for the regions with putative SRE motifs. We used non-Hispanic Caucasians with neuroimaging, and fluid biomarkers for Alzheimer's disease (AD) and identified 17,088 common exonic SNPs affecting exon skipping. GWAS identified one SNP (rs1140317) in HLA-DQB1 as significantly associated with entorhinal cortical thickness, AD neuroimaging biomarker, after controlling for multiple testing. Further analysis revealed that rs1140317 was significantly associated with brain amyloid-f deposition (PET and CSF). HLA-DQB1 is an essential immune gene and may regulate AS, thereby contributing to AD pathology. SRE may hold potential as novel therapeutic targets for AD.
Identifiers
29888056PMC5961815W2921028803What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.