ArticleTranslational psychiatry2021
Cell-type-specific expression quantitative trait loci associated with Alzheimer disease in blood and brain tissue.
Article in Translational psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 50 citations in OpenAlex.
- Novel cell markers with altered expression in brain aging and Alzheimer's disease: A review.IBRO neuroscience reports · 2026Article
- 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
- Identifying Single-Cell Expression Quantitative Trait Loci Using a Bootstrap Penalized Hurdle Model.Genes · 2026Article
- Integrating axis quantitative trait loci looks beyond cell types and offers insights into brain-related traits.Nature communications · 2025Article
- Altered expression of LINC03091 and LINC03090 LncRNAs in bipolar disorder: a case-control study.Scientific reports · 2025Article
- Review
- Multi-omics analysis for identifying cell-type-specific and bulk-level druggable targets in Alzheimer's disease.Journal of translational medicine · 2025Article
- Trans-eQTL hotspots shape complex traits by modulating cellular states.Cell genomics · 2025Article
- Integrative multi-omics QTL colocalization maps regulatory architecture in aging human brain.medRxiv : the preprint server for health sciences · 2025Article
- Interaction of genetic variants and methylation in transcript-level expression regulation in Alzheimer's disease by multi-omics data analysis.BMC genomics · 2025Article
- regionalpcs improve discovery of DNA methylation associations with complex traits.Nature communications · 2025Article
- Regression convolutional neural network models implicate peripheral immune regulatory variants in the predisposition to Alzheimer's disease.PLoS computational biology · 2024Article
- Article
- omicSynth: An open multi-omic community resource for identifying druggable targets across neurodegenerative diseases.American journal of human genetics · 2024Article
- Myeloid antigen-presenting cells in neurodegenerative diseases: a focus on classical and non-classical MHC molecules.Frontiers in neuroscience · 2024Review
- Statistical Inference of Cell-type Proportions Estimated from Bulk Expression Data.Journal of the American Statistical Association · 2024Article
- eQTL studies: from bulk tissues to single cells.Journal of genetics and genomics = Yi chuan xue bao · 2023Review
- Identification of asthma-related genes using asthmatic blood eQTLs of Korean patients.BMC medical genomics · 2023Article
- Methods and Insights from Single-Cell Expression Quantitative Trait Loci.Annual review of genomics and human genetics · 2023Review
- omicSynth: an Open Multi-omic Community Resource for Identifying Druggable Targets across Neurodegenerative Diseases.medRxiv : the preprint server for health sciences · 2023Article
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7 authors at 1 institution in 1 country.
Funding
Abstract
Because regulation of gene expression is heritable and context-dependent, we investigated AD-related gene expression patterns in cell types in blood and brain. Cis-expression quantitative trait locus (eQTL) mapping was performed genome-wide in blood from 5257 Framingham Heart Study (FHS) participants and in brain donated by 475 Religious Orders Study/Memory & Aging Project (ROSMAP) participants. The association of gene expression with genotypes for all cis SNPs within 1 Mb of genes was evaluated using linear regression models for unrelated subjects and linear-mixed models for related subjects. Cell-type-specific eQTL (ct-eQTL) models included an interaction term for the expression of "proxy" genes that discriminate particular cell type. Ct-eQTL analysis identified 11,649 and 2533 additional significant gene-SNP eQTL pairs in brain and blood, respectively, that were not detected in generic eQTL analysis. Of note, 386 unique target eGenes of significant eQTLs shared between blood and brain were enriched in apoptosis and Wnt signaling pathways. Five of these shared genes are established AD loci. The potential importance and relevance to AD of significant results in myeloid cell types is supported by the observation that a large portion of GWS ct-eQTLs map within 1 Mb of established AD loci and 58% (23/40) of the most significant eGenes in these eQTLs have previously been implicated in AD. This study identified cell-type-specific expression patterns for established and potentially novel AD genes, found additional evidence for the role of myeloid cells in AD risk, and discovered potential novel blood and brain AD biomarkers that highlight the importance of cell-type-specific analysis.
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