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
Original language | English |
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Pages (from-to) | 1226-1235 |
Number of pages | 10 |
Journal | Human Mutation |
Volume | 36 |
Issue number | 12 |
DOIs | |
Publication status | Published - Dec 1 2015 |
Keywords
- Alzheimer dementia
- EOAD
- Meta-analysis
- Next-generation sequencing
- PLD3
- Rare variants
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)