ArticleMolecular psychiatry2016
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.
Article in Molecular psychiatry, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01622894 (Genetics of Mendelian Forms of Young Onset Alzheimer Disease. Identification of Novel Genetic Causes of AD Are of Importance in Completing the Mechanisms of the Amyloid Hypothesis. This Project is Useful to Promote the Guidelines on the Genetic Diagnosis of AD in France.), which is not on this map. Cited by 67 papers, 4 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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Genetics of Mendelian Forms of Young Onset Alzheimer Disease. Identification of Novel Genetic Causes of AD Are of Importance in Completing the Mechanisms of the Amyloid Hypothesis. This Project is Useful to Promote the Guidelines on the Genetic Diagnosis of AD in France.
Who cites it
67 citing papers in PubMed, 4 syntheses or guidelines pooled it, 133 citations in OpenAlex.
- Cross-ancestry genome-wide association study identifies implications of SORL1 in cerebral beta-amyloid deposition.Nature communications · 2025Pooled it
- Finding memo: versatile interactions of the VPS10p-Domain receptors in Alzheimer's disease.Molecular neurodegeneration · 2022Pooled it
- A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.Acta neuropathologica · 2016Pooled it
- ABCA7 rare variants and Alzheimer disease risk.Neurology · 2016Pooled it
- The Alzheimer's disease risk gene SORL1 is a regulator of excitatory neuronal function.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- SORLA up-regulation suppresses pathological effects in aged tauopathy mouse brain.Science advances · 2026Article
- Novel Frameshift Variant in SORL1 Gene Identified in a EOAD Family Causes APP Sorting Dysfunction and Endolysosomal Swelling.Molecular neurobiology · 2026Article
- IsmedRxiv : the preprint server for health sciences · 2026Article
- Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila.American journal of human genetics · 2025Article
- Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.Molecular neurodegeneration · 2025Article
- Revealing the nervous system requirements of Alzheimer's disease risk genes inbioRxiv : the preprint server for biology · 2025Article
- Article
- Soluble SorLA in CSF, a novel biomarker to explore disrupted trafficking of SorLA protein in Alzheimer disease.Alzheimer's research & therapy · 2025Article
- Article
- Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.International journal of molecular sciences · 2024Review
- APP dyshomeostasis in the pathogenesis of Alzheimer's disease: implications for current drug targets.Alzheimer's research & therapy · 2024Review
- Functional characterization ofPhilosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Article
- Cell type-specific functions of Alzheimer's disease endocytic risk genes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Review
- Pharmacogenomics of Dementia: Personalizing the Treatment of Cognitive and Neuropsychiatric Symptoms.Genes · 2023Review
- Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer's Disease.International journal of molecular sciences · 2023Article
7 more citing papers are in PubMed but not listed here.
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Authors and funding
29 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The SORL1 protein plays a protective role against the secretion of the amyloid β peptide, a key event in the pathogeny of Alzheimer's disease. We assessed the impact of SORL1 rare variants in early-onset Alzheimer's disease (EOAD) in a case-control setting. We conducted a whole exome analysis among 484 French EOAD patients and 498 ethnically matched controls. After collapsing rare variants (minor allele frequency ≤1%), we detected an enrichment of disruptive and predicted damaging missense SORL1 variants in cases (odds radio (OR)=5.03, 95% confidence interval (CI)=(2.02-14.99), P=7.49.10(-5)). This enrichment was even stronger when restricting the analysis to the 205 cases with a positive family history (OR=8.86, 95% CI=(3.35-27.31), P=3.82.10(-7)). We conclude that predicted damaging rare SORL1 variants are a strong risk factor for EOAD and that the association signal is mainly driven by cases with positive family history.
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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.