ArticleHuman mutation2015
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 24 citations in OpenAlex.
- 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
- Crystal structure of Alzheimer's disease phospholipase D3 provides a molecular basis for understanding its normal and pathological functions.The FEBS journal · 2024Article
- Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.Molecular neurodegeneration · 2022Review
- Case Report: A Homozygous Mutation (p.Y62X) ofFrontiers in aging neuroscience · 2021Article
- Lipids and Alzheimer's Disease.International journal of molecular sciences · 2020Review
- Article
- The Challenge to Search for New Nervous System Disease Biomarker Candidates: the Opportunity to Use the Proteogenomics Approach.Journal of molecular neuroscience : MN · 2019Review
- PLD3 epigenetic changes in the hippocampus of Alzheimer's disease.Clinical epigenetics · 2018Article
- Impact of late-onset Alzheimer's genetic risk factors on beta-amyloid endocytic production.Cellular and molecular life sciences : CMLS · 2018Review
- Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.Journal of Alzheimer's disease : JAD · 2018Review
- Monoaminergic neuropathology in Alzheimer's disease.Progress in neurobiology · 2017Review
- Toward precision medicine in neurological diseases.Annals of translational medicine · 2016Review
Corrections and comments
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Authors and funding
43 authors at 20 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare variants in the phospholipase D3 gene (PLD3) were associated with increased risk for late-onset Alzheimer disease (LOAD). We identified a missense mutation in PLD3 in whole-genome sequence data of a patient with autopsy confirmed Alzheimer disease (AD) and onset age of 50 years. Subsequently, we sequenced PLD3 in a Belgian early-onset Alzheimer disease (EOAD) patient (N = 261) and control (N = 319) cohort, as well as in European EOAD patients (N = 946) and control individuals (N = 1,209) ascertained in different European countries. Overall, we identified 22 rare variants with a minor allele frequency <1%, 20 missense and two splicing mutations. Burden analysis did not provide significant evidence for an enrichment of rare PLD3 variants in EOAD patients in any of the patient/control cohorts. Also, meta-analysis of the PLD3 data, including a published dataset of a German EOAD cohort, was not significant (P = 0.43; OR = 1.53, 95% CI 0.60-3.31). Consequently, our data do not support a role for PLD3 rare variants in the genetic etiology of EOAD in European EOAD patients. Our data corroborate the negative replication data obtained in LOAD studies and therefore a genetic role of PLD3 in AD remains to be demonstrated.
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