SynthesisNeurology2012
Novel late-onset Alzheimer disease loci variants associate with brain gene expression.
Synthesis in Neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers, 6 of them syntheses that pooled it.
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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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Who cites it
97 citing papers in PubMed, 6 syntheses or guidelines pooled it, 166 citations in OpenAlex.
- Pooled it
- An analysis of genetically regulated gene expression across multiple tissues implicates novel gene candidates in Alzheimer's disease.Alzheimer's research & therapy · 2020Pooled it
- CLU rs9331888 Polymorphism Contributes to Alzheimer's Disease Susceptibility in Caucasian But Not East Asian Populations.Molecular neurobiology · 2016Pooled it
- The CLU gene rs11136000 variant is significantly associated with Alzheimer's disease in Caucasian and Asian populations.Neuromolecular medicine · 2014Pooled it
- Glutathione S-transferase omega genes in Alzheimer and Parkinson disease risk, age-at-diagnosis and brain gene expression: an association study with mechanistic implications.Molecular neurodegeneration · 2012Pooled it
- Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.PLoS genetics · 2012Pooled it
- Shared genetic architecture between Alzheimer's disease and brain morphology.Alzheimer's research & therapy · 2026Article
- Systems biology of Alzheimer's Disease: a scoping review of key pathways and mechanisms.Molecular neurodegeneration · 2026Article
- The complement cascade in Alzheimer's disease: modern implications of an ancient immune protagonist.Molecular neurodegeneration · 2025Review
- Semi-supervised Bayesian integration of multiple spatial proteomics datasets.PLoS computational biology · 2025Article
- Article
- Protective genetic variants against Alzheimer's disease.The Lancet. Neurology · 2025Review
- Alzheimer's disease protective allele of Clusterin modulates neuronal excitability through lipid-droplet-mediated neuron-glia communication.Molecular neurodegeneration · 2025Article
- Pathways to Alzheimer's Disease: The Intersecting Roles of Clusterin and Apolipoprotein E in Amyloid-β Regulation and Neuronal Health.Pathophysiology : the official journal of the International Society for Pathophysiology · 2024Review
- Alzheimer's disease protective allele ofmedRxiv : the preprint server for health sciences · 2024Article
- Prevention of Alzheimer's disease through diet: An exploratory review.Metabolism open · 2023Review
- Astrocytic response mediated by the CLU risk allele inhibits OPC proliferation and myelination in a human iPSC model.Cell reports · 2023Article
- The normalizing effects of the CYP46A1 activator efavirenz on retinal sterol levels and risk factors for glaucoma in ApojCellular and molecular life sciences : CMLS · 2023Article
- Integrative Genomic Analysis of m6a-SNPs Identifies Potential Functional Variants Associated with Alzheimer's Disease.ACS omega · 2023Article
- Association of candidate genetic variants and circulating levels of ApoE/ApoJ with common neuroimaging features of cerebral amyloid angiopathy.Frontiers in aging neuroscience · 2023Article
37 more citing papers are in PubMed but not listed here.
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Authors and funding
183 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveRecent genome-wide association studies (GWAS) of late-onset Alzheimer disease (LOAD) identified 9 novel risk loci. Discovery of functional variants within genes at these loci is required to confirm their role in Alzheimer disease (AD). Single nucleotide polymorphisms that influence gene expression (eSNPs) constitute an important class of functional variants. We therefore investigated the influence of the novel LOAD risk loci on human brain gene expression.
methodsWe measured gene expression levels in the cerebellum and temporal cortex of autopsied AD subjects and those with other brain pathologies (∼400 total subjects). To determine whether any of the novel LOAD risk variants are eSNPs, we tested their cis-association with expression of 6 nearby LOAD candidate genes detectable in human brain (ABCA7, BIN1, CLU, MS4A4A, MS4A6A, PICALM) and an additional 13 genes ±100 kb of these SNPs. To identify additional eSNPs that influence brain gene expression levels of the novel candidate LOAD genes, we identified SNPs ±100 kb of their location and tested for cis-associations.
resultsCLU rs11136000 (p = 7.81 × 10(-4)) and MS4A4A rs2304933/rs2304935 (p = 1.48 × 10(-4)-1.86 × 10(-4)) significantly influence temporal cortex expression levels of these genes. The LOAD-protective CLU and risky MS4A4A locus alleles associate with higher brain levels of these genes. There are other cis-variants that significantly influence brain expression of CLU and ABCA7 (p = 4.01 × 10(-5)-9.09 × 10(-9)), some of which also associate with AD risk (p = 2.64 × 10(-2)-6.25 × 10(-5)).
conclusionsCLU and MS4A4A eSNPs may at least partly explain the LOAD risk association at these loci. CLU and ABCA7 may harbor additional strong eSNPs. These results have implications in the search for functional variants at the novel LOAD risk loci.
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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.