ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2022
Whole genome sequencing-based copy number variations reveal novel pathways and targets in Alzheimer's disease.
Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 27 citations in OpenAlex.
- Copy number variant scores are associated with cerebrovascular pathology in aging.Molecular psychiatry · 2026Article
- Shared genetic architecture of schizophrenia and Alzheimer's disease and related dementias implicates 16p11.2 and lifespan brain vulnerability.Molecular psychiatry · 2026Article
- Alzheimer's disease: genetic background in the era of next-generation sequencing technologies.Brain communications · 2026Review
- P2RX7 modulates the function of human microglia-like cells and mediates the association of IL18 with Alzheimer's disease traits.Neurobiology of disease · 2025Article
- Polygenic risk for Alzheimer's disease in healthy aging: age-related and APOE-driven effects on brain structures and cognition.Genome medicine · 2025Article
- Exploring the co-morbid relationship between Alzheimer's disease and lung cancer in the 5xFAD transgenic mouse model.Animal models and experimental medicine · 2025Article
- Cell-type specific profiling of human entorhinal cortex at the onset of Alzheimer's disease neuropathology.bioRxiv : the preprint server for biology · 2025Article
- Searching for new drugs to treat Alzheimer's disease dementia through multiple pathways.World journal of clinical cases · 2025Article
- Prediction of mild cognitive impairment using blood multi-omics data.Frontiers in genetics · 2025Article
- Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens.Human genomics · 2024Review
- Periodontitis and brain magnetic resonance imaging markers of Alzheimer's disease and cognitive aging.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- The ROSMAP project: aging and neurodegenerative diseases through omic sciences.Frontiers in neuroinformatics · 2024Review
- Pharmacogenomics of Dementia: Personalizing the Treatment of Cognitive and Neuropsychiatric Symptoms.Genes · 2023Review
- Chromosomal inversion polymorphisms shape human brain morphology.Cell reports · 2023Article
- Bibliometric analysis of global research on the role of apolipoprotein E in Alzheimer's disease.Heliyon · 2023Review
- Effects of copy number variations on longevity in late-onset Alzheimer's disease patients: insights from a causality network analysis.Frontiers in aging neuroscience · 2023Article
- Omics-based biomarkers discovery for Alzheimer's disease.Cellular and molecular life sciences : CMLS · 2022Review
- Whole genome sequencing-based copy number variations reveal novel pathways and targets in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- The role of structural variations in Alzheimer's disease and other neurodegenerative diseases.Frontiers in aging neuroscience · 2022Review
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
Abstract
introductionA few copy number variations (CNVs) have been reported for Alzheimer's disease (AD). However, there is a lack of a systematic investigation of CNVs in AD based on whole genome sequencing (WGS) data.
methodsWe used four methods to identify consensus CNVs from the WGS data of 1,411 individuals and further investigated their functional roles in AD using the matched transcriptomic and clinicopathological data.
resultsWe identified 3,012 rare AD-specific CNVs whose residing genes are enriched for cellular glucuronidation and neuron projection pathways. Genes whose mRNA expressions are significantly correlated with common CNVs are involved in major histocompatibility complex class II receptor activity. Integration of CNVs, gene expression, and clinical and pathological traits further pinpoints a key CNV that potentially regulates immune response in AD. DISCUSSION: We identify CNVs as potential genetic regulators of immune response in AD. The identified CNVs and their downstream gene networks reveal novel pathways and targets for AD.
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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.