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-Valle; Albert 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

doi:10.1002/humu.22908

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

Centro San Giovanni di Dio - Fatebenefratelli

Research output: Contribution to journal › Article › peer-review

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
Pages (from-to)	1226-1235
Number of pages	10
Journal	Human Mutation
Volume	36
Issue number	12
DOIs	https://doi.org/10.1002/humu.22908
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)

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10.1002/humu.22908

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Cacace, R., Van den Bossche, T., Engelborghs, S., Geerts, N., Laureys, A., Dillen, L., Graff, C., Thonberg, H., Chiang, H. H., Pastor, P., Ortega-Cubero, S., Pastor, M. A., Diehl-Schmid, J., Alexopoulos, P., Benussi, L., Ghidoni, R., Binetti, G., Nacmias, B., Sorbi, S., ... Van Broeckhoven, C. (2015). Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort. Human Mutation, 36(12), 1226-1235. https://doi.org/10.1002/humu.22908

Cacace, R, Van den Bossche, T, Engelborghs, S, Geerts, N, Laureys, A, Dillen, L, Graff, C, Thonberg, H, Chiang, HH, Pastor, P, Ortega-Cubero, S, Pastor, MA, Diehl-Schmid, J, Alexopoulos, P, Benussi, L , Ghidoni, R , Binetti, G, Nacmias, B, Sorbi, S, Sanchez-Valle, R, Lladó, A, Gelpi, E, Almeida, MR, Santana, I, Tsolaki, M, Koutroumani, M, Clarimon, J, Lleó, A, Fortea, J, de Mendonça, A, Martins, M, Borroni, B, Padovani, A, Matej, R, Rohan, Z, Vandenbulcke, M, Vandenberghe, R, De Deyn, PP, Cras, P, van der Zee, J, Sleegers, K & Van Broeckhoven, C 2015, 'Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort', Human Mutation, vol. 36, no. 12, pp. 1226-1235. https://doi.org/10.1002/humu.22908

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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 ",

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AU - Cacace, Rita

AU - Van den Bossche, Tobi

AU - Engelborghs, Sebastiaan

AU - Geerts, Nathalie

AU - Laureys, Annelies

AU - Dillen, Lubina

AU - Graff, Caroline

AU - Thonberg, Håkan

AU - Chiang, Huei Hsin

AU - Pastor, Pau

AU - Ortega-Cubero, Sara

AU - Pastor, Maria A.

AU - Diehl-Schmid, Janine

AU - Alexopoulos, Panagiotis

AU - Benussi, Luisa

AU - Ghidoni, Roberta

AU - Binetti, Giuliano

AU - Nacmias, Benedetta

AU - Sorbi, Sandro

AU - Sanchez-Valle, Raquel

AU - Lladó, Albert

AU - Gelpi, Ellen

AU - Almeida, Maria Rosário

AU - Santana, Isabel

AU - Tsolaki, Magda

AU - Koutroumani, Maria

AU - Clarimon, Jordi

AU - Lleó, Alberto

AU - Fortea, Juan

AU - de Mendonça, Alexandre

AU - Martins, Madalena

AU - Borroni, Barbara

AU - Padovani, Alessandro

AU - Matej, Radoslav

AU - Rohan, Zdenek

AU - Vandenbulcke, Mathieu

AU - Vandenberghe, Rik

AU - De Deyn, Peter P.

AU - Cras, Patrick

AU - van der Zee, Julie

AU - Sleegers, Kristel

AU - Van Broeckhoven, Christine

PY - 2015/12/1

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

Abstract

Keywords

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