SynthesisBMC genomics2022
Integrative analysis of summary data from GWAS and eQTL studies implicates genes differentially expressed in Alzheimer's disease.
Synthesis in BMC genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Mitochondrial dysfunction gene expression, DNA methylation, and inflammatory cytokines interaction activate Alzheimer's disease: a multi-omics Mendelian randomization study.Journal of translational medicine · 2024Pooled it
- The impact for causal associations between common diseases and inflammatory bowel disease: a disease-wide bidirectional Mendelian randomization study.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- Integrative analysis of single-cell and bulk RNA sequencing data using machine learning identifies PTGDS as a key subsynovial fibroblast gene in osteoarthritis.Journal of molecular histology · 2026Article
- Article
- Association ofAnnals of medicine · 2025Article
- Integration of multi-omics quantitative trait loci evidence reveals novel susceptibility genes for Alzheimer's disease.Scientific reports · 2025Article
- Multi-omics analysis for identifying cell-type-specific and bulk-level druggable targets in Alzheimer's disease.Journal of translational medicine · 2025Article
- Genetic susceptibility to cerebral palsy involves complement system-mediated neuronal development and plasticity pathway.Scientific reports · 2025Article
- TEX10: A Novel Drug Target and Potential Therapeutic Direction for Sleep Apnea Syndrome.Nature and science of sleep · 2025Article
- Employing Informatics Strategies in Alzheimer's Disease Research: A Review from Genetics, Multiomics, and Biomarkers to Clinical Outcomes.Annual review of biomedical data science · 2024Review
- Bayesian genome-wide TWAS with reference transcriptomic data of brain and blood tissues identified 141 risk genes for Alzheimer's disease dementia.Alzheimer's research & therapy · 2024Article
- PheSeq, a Bayesian deep learning model to enhance and interpret the gene-disease association studies.Genome medicine · 2024Article
- Circadian clock-related genome-wide mendelian randomization identifies putatively genes for ulcerative colitis and its comorbidity.BMC genomics · 2024Article
- CDKN1A as a target of senescence in heart failure: insights from a multiomics study.Frontiers in pharmacology · 2024Article
- Whole-genome sequencing analysis of suicide deaths integrating brain-regulatory eQTLs data to identify risk loci and genes.Molecular psychiatry · 2023Article
- Article
- Epigenome-wide analysis of maternal exposure to green space during gestation and cord blood DNA methylation in the ENVIRONAGE cohort.Environmental research · 2023Article
- Functional Genomics Analysis to Disentangle the Role of Genetic Variants in Major Depression.Genes · 2022Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
backgroundAlthough genome-wide association studies (GWAS) have successfully located various genetic variants susceptible to Alzheimer's Disease (AD), it is still unclear how specific variants interact with genes and tissues to elucidate pathologies associated with AD. Summary-data-based Mendelian Randomization (SMR) addresses this problem through an instrumental variable approach that integrates data from independent GWAS and expression quantitative trait locus (eQTL) studies in order to infer a causal effect of gene expression on a trait.
resultsOur study employed the SMR approach to integrate a set of meta-analytic cis-eQTL information from the Genotype-Tissue Expression (GTEx), CommonMind Consortium (CMC), and Religious Orders Study and Rush Memory and Aging Project (ROS/MAP) consortiums with three sets of meta-analysis AD GWAS results.
conclusionsOur analysis identified twelve total gene probes (associated with twelve distinct genes) with a significant association with AD. Four of these genes survived a test of pleiotropy from linkage (the HEIDI test).Three of these genes - RP11-385F7.1, PRSS36, and AC012146.7 - have not yet been reported differentially expressed in the brain in the context of AD, and thus are the novel findings warranting further investigation.
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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 Socratic graph.