ArticleGenome medicine2018
Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.
Article in Genome medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.
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Who cites it
37 citing papers in PubMed, 2 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations.Nature neuroscience · 2019Pooled it
- Association BetweenFrontiers in neurology · 2019Pooled it
- Cell-based polygenic risk scores predict clinical progression and prioritize network-based therapeutic targets in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- The association of Alzheimer's disease-related SNPs with mild cognitive impairment susceptibility in the Chinese population.Scientific reports · 2026Article
- Transcriptomic analyses of human brains with Alzheimer's disease identified dysregulated epilepsy-causing genes.medRxiv : the preprint server for health sciences · 2025Article
- Circulating blood circular RNA in Parkinson's Disease; from involvement in pathology to diagnostic tools in at-risk individuals.NPJ Parkinson's disease · 2024Article
- Cognitive resilience to Alzheimer's disease characterized by cell-type abundance.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Genetic and multi-omic resources for Alzheimer disease and related dementia from the Knight Alzheimer Disease Research Center.Scientific data · 2024Article
- Brain cell-type shifts in Alzheimer's disease, autism, and schizophrenia interrogated using methylomics and genetics.Science advances · 2024Article
- Alzheimer's disease rewires gene coexpression networks coupling different brain regions.NPJ systems biology and applications · 2024Article
- Brain high-throughput multi-omics data reveal molecular heterogeneity in Alzheimer's disease.PLoS biology · 2024Article
- Circulating blood circular RNA in Parkinson's Disease; a systematic study.medRxiv : the preprint server for health sciences · 2024Article
- Multilayer Analysis of RNA Sequencing Data in Alzheimer's Disease to Unravel Molecular Mysteries.Advances in neurobiology · 2024Review
- Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Article
- Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases.Nature genetics · 2023Article
- Conserved gene signatures shared amongFrontiers in molecular biosciences · 2023Article
- Multi-ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke.Brain : a journal of neurology · 2022Article
- Comprehensive evaluation of deconvolution methods for human brain gene expression.Nature communications · 2022Article
- Circular RNA detection identifies circPSEN1 alterations in brain specific to autosomal dominant Alzheimer's disease.Acta neuropathologica communications · 2022Article
- Murine roseolovirus does not accelerate amyloid-β pathology and human roseoloviruses are not over-represented in Alzheimer disease brains.Molecular neurodegeneration · 2022Article
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Authors and funding
16 authors at 1 institution in 1 country.
Funding
Abstract
backgroundAlzheimer's disease (AD) is characterized by neuronal loss and astrocytosis in the cerebral cortex. However, the specific effects that pathological mutations and coding variants associated with AD have on the cellular composition of the brain are often ignored.
methodsWe developed and optimized a cell-type-specific expression reference panel and employed digital deconvolution methods to determine brain cellular distribution in three independent transcriptomic studies.
resultsWe found that neuronal and astrocyte relative proportions differ between healthy and diseased brains and also among AD cases that carry specific genetic risk variants. Brain carriers of pathogenic mutations in APP, PSEN1, or PSEN2 presented lower neuron and higher astrocyte relative proportions compared to sporadic AD. Similarly, the APOE ε4 allele also showed decreased neuronal and increased astrocyte relative proportions compared to AD non-carriers. In contrast, carriers of variants in TREM2 risk showed a lower degree of neuronal loss compared to matched AD cases in multiple independent studies.
conclusionsThese findings suggest that genetic risk factors associated with AD etiology have a specific imprinting in the cellular composition of AD brains. Our digital deconvolution reference panel provides an enhanced understanding of the fundamental molecular mechanisms underlying neurodegeneration, enabling the analysis of large bulk RNA-sequencing studies for cell composition and suggests that correcting for the cellular structure when performing transcriptomic analysis will lead to novel insights of AD.
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