SynthesisMolecular psychiatry2014
ATP5H/KCTD2 locus is associated with Alzheimer's disease risk.
Synthesis in Molecular psychiatry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 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.
The trial behind it
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
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- Dissecting Complex and Multifactorial Nature of Alzheimer's Disease Pathogenesis: a Clinical, Genomic, and Systems Biology Perspective.Molecular neurobiology · 2016Pooled it
- KCTD Family: Emerging Regulators of GPCR Biased Signaling.Handbook of experimental pharmacology · 2026Review
- Systems genetics of lifespan and senescence in Drosophila melanogaster.BMC biology · 2025Article
- The Cul3 ubiquitin ligase engages Insomniac as an adaptor to impact sleep and synaptic homeostasis.PLoS genetics · 2025Article
- KCTD10 regulates brain development by destabilizing brain disorder-associated protein KCTD13.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- A Comprehensive Analysis of the Structural Recognition between KCTD Proteins and Cullin 3.International journal of molecular sciences · 2024Article
- Adamantaniline Derivatives Target ATP5B to Inhibit Translation of Hypoxia Inducible Factor-1α.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Structural basis for the ubiquitination of G protein βγ subunits by KCTD5/Cullin3 E3 ligase.Science advances · 2023Article
- A novel Alzheimer's disease prognostic signature: identification and analysis of glutamine metabolism genes in immunogenicity and immunotherapy efficacy.Scientific reports · 2023Article
- Artificial intelligence-driven meta-analysis of brain gene expression identifies novel gene candidates and a role for mitochondria in Alzheimer's disease.Computational and structural biotechnology journal · 2023Article
- Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- Altered succinylation of mitochondrial proteins, APP and tau in Alzheimer's disease.Nature communications · 2022Article
- Members of the KCTD family are major regulators of cAMP signaling.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Cognitive Impairment and Dementia After Stroke: Design and Rationale for the DISCOVERY Study.Stroke · 2021Review
- The ATP Synthase Deficiency in Human Diseases.Life (Basel, Switzerland) · 2021Review
- The biological pathways of Alzheimer disease: a review.AIMS neuroscience · 2021Review
- Control of craniofacial and brain development by Cullin3-RING ubiquitin ligases: Lessons from human disease genetics.Experimental cell research · 2020Review
- Shared genetic etiology underlying late-onset Alzheimer's disease and posttraumatic stress syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2020Article
- Review
- Gene biomarker discovery at different stages of Alzheimer using gene co-expression network approach.Scientific reports · 2020Article
Corrections and comments
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Authors and funding
37 authors at 12 institutions in 4 countries.
Funding
Abstract
To identify loci associated with Alzheimer disease, we conducted a three-stage analysis using existing genome-wide association studies (GWAS) and genotyping in a new sample. In Stage I, all suggestive single-nucleotide polymorphisms (at P<0.001) in a previously reported GWAS of seven independent studies (8082 Alzheimer's disease (AD) cases; 12 040 controls) were selected, and in Stage II these were examined in an in silico analysis within the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium GWAS (1367 cases and 12904 controls). Six novel signals reaching P<5 × 10(-6) were genotyped in an independent Stage III sample (the Fundació ACE data set) of 2200 sporadic AD patients and 2301 controls. We identified a novel association with AD in the adenosine triphosphate (ATP) synthase, H+ transporting, mitochondrial F0 (ATP5H)/Potassium channel tetramerization domain-containing protein 2 (KCTD2) locus, which reached genome-wide significance in the combined discovery and genotyping sample (rs11870474, odds ratio (OR)=1.58, P=2.6 × 10(-7) in discovery and OR=1.43, P=0.004 in Fundació ACE data set; combined OR=1.53, P=4.7 × 10(-9)). This ATP5H/KCTD2 locus has an important function in mitochondrial energy production and neuronal hyperpolarization during cellular stress conditions, such as hypoxia or glucose deprivation.
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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 OpenQuestion graph.