ArticleAlzheimer's research & therapy2020
Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility.
Article in Alzheimer's research & therapy, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- Synapse vulnerability and resilience underlying Alzheimer's disease.EBioMedicine · 2025Review
- Genetic Predisposition to Hippocampal Atrophy and Risk of Amnestic Mild Cognitive Impairment and Alzheimer's Dementia.Geriatrics (Basel, Switzerland) · 2025Article
- Towards a Unitary Hypothesis of Alzheimer's Disease Pathogenesis.Journal of Alzheimer's disease : JAD · 2024Article
- Cardiovascular risk burden, dementia risk and brain structural imaging markers: a study from UK Biobank.General psychiatry · 2024Article
- Article
- A review of brain imaging biomarker genomics in Alzheimer's disease: implementation and perspectives.Translational neurodegeneration · 2022Review
- LC-MS/MS Insight into Vitamin C Restoration to Metabolic Disorder Evoked by Amyloid β inMetabolites · 2022Article
- Multi-Omics-Based Autophagy-Related Untypical Subtypes in Patients with Cerebral Amyloid Pathology.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2022Article
- Transcriptome analysis reveals potential marker genes for diagnosis of Alzheimer's disease and vascular dementia.Frontiers in genetics · 2022Article
- In Alzheimer-prone brain regions, metabolism and risk-gene expression are strongly correlated.Brain communications · 2022Article
- Decreased MEF2A Expression Regulated by Its Enhancer Methylation Inhibits Autophagy and May Play an Important Role in the Progression of Alzheimer's Disease.Frontiers in neuroscience · 2021Article
- Analysis of Genotype-Phenotype Correlations in Patients With Degenerative Dementia Through the Whole Exome Sequencing.Frontiers in aging neuroscience · 2021Article
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Authors and funding
17 authors at 6 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
introductionAlthough the heritability of sporadic Alzheimer's disease (AD) is estimated to be 60-80%, addressing the genetic contribution to AD risk still remains elusive. More specifically, it remains unclear whether genetic variants are able to affect neurodegenerative brain features that can be addressed by in vivo imaging techniques.
methodsTargeted sequencing analysis of the coding and UTR regions of 132 AD susceptibility genes was performed. Neuroimaging data using
resultsWe called 5391 high-quality single nucleotide variants (SNVs) on AD susceptibility genes and selected significant associations between variants and five in vivo AD pathologies: (1) amyloid β (Aβ) deposition, (2) AD-signature region cerebral glucose metabolism (AD-Cm), (3) posterior cingulate cortex (PCC) cerebral glucose metabolism (PCC-Cm), (4) AD-signature region cortical thickness (AD-Ct), and (5) hippocampal volume (Hv). The association analysis for common variants (allele frequency (AF) > 0.05) yielded several novel loci associated with Aβ deposition (PIWIL1-rs10848087), AD-Cm (NME8-rs2722372 and PSEN2-rs75733498), AD-Ct (PSEN1-rs7523) and, Hv (CASS4-rs3746625). Meanwhile, in a gene-based analysis for rare variants (AF < 0.05), cases carrying rare variants in LPL, FERMT2, NFAT5, DSG2, and ITPR1 displayed associations with the neuroimaging features. Exploratory voxel-based brain morphometry between the variant carriers and non-carriers was performed subsequently. Finally, we document a strong association of previously reported APOE variants with the in vivo AD pathologies and demonstrate that the variants exert a causal effect on AD susceptibility via neuroimaging features.
conclusionsThis study provides novel associations of genetic factors to Aβ accumulation and AD-related neurodegeneration to influence AD susceptibility.
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