Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

Rita Cacace, Tobi Van den Bossche, Sebastiaan Engelborghs, Nathalie Geerts, Annelies Laureys, Lubina Dillen, Caroline Graff, Håkan Thonberg, Huei Hsin Chiang, Pau Pastor, Sara Ortega-Cubero, Maria A. Pastor, Janine Diehl-Schmid, Panagiotis Alexopoulos, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Benedetta Nacmias, Sandro Sorbi, Raquel Sanchez-ValleAlbert Lladó, Ellen Gelpi, Maria Rosário Almeida, Isabel Santana, Magda Tsolaki, Maria Koutroumani, Jordi Clarimon, Alberto Lleó, Juan Fortea, Alexandre de Mendonça, Madalena Martins, Barbara Borroni, Alessandro Padovani, Radoslav Matej, Zdenek Rohan, Mathieu Vandenbulcke, Rik Vandenberghe, Peter P. De Deyn, Patrick Cras, Julie van der Zee, Kristel Sleegers, Christine Van Broeckhoven

Research output: Contribution to journalArticlepeer-review


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 languageEnglish
Pages (from-to)1226-1235
Number of pages10
JournalHuman Mutation
Issue number12
Publication statusPublished - Dec 1 2015


  • Alzheimer dementia
  • EOAD
  • Meta-analysis
  • Next-generation sequencing
  • PLD3
  • Rare variants

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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