Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer’s disease

Recently, mutations in phospholipase D3 (PLD3) were reported in late-onset Alzheimer's disease (AD). By screening the coding regions of PLD3 for variants in a European cohort of 1,089 AD cases, 182 individuals with frontotemporal lobar degeneration and 1,456 controls, we identified 32 variants...

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Autores principales: Schulte, Eva C, Kurz, Alexander, Alexopoulos, Panagiotis, Hampel, Harald, Peters, Annette, Gieger, Christian, Rujescu, Dan, Diehl-Schmid, Janine, Winkelmann, Juliane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785568/
https://www.ncbi.nlm.nih.gov/pubmed/27081517
http://dx.doi.org/10.1038/hgv.2014.28
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author Schulte, Eva C
Kurz, Alexander
Alexopoulos, Panagiotis
Hampel, Harald
Peters, Annette
Gieger, Christian
Rujescu, Dan
Diehl-Schmid, Janine
Winkelmann, Juliane
author_facet Schulte, Eva C
Kurz, Alexander
Alexopoulos, Panagiotis
Hampel, Harald
Peters, Annette
Gieger, Christian
Rujescu, Dan
Diehl-Schmid, Janine
Winkelmann, Juliane
author_sort Schulte, Eva C
collection PubMed
description Recently, mutations in phospholipase D3 (PLD3) were reported in late-onset Alzheimer's disease (AD). By screening the coding regions of PLD3 for variants in a European cohort of 1,089 AD cases, 182 individuals with frontotemporal lobar degeneration and 1,456 controls, we identified 32 variants with a minor allele frequency <5% and observed an excess of rare variants in individuals with late- but not early-onset AD (P=0.034, χ (2)-test; odds ratio=1.46).
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spelling pubmed-47855682016-04-14 Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer’s disease Schulte, Eva C Kurz, Alexander Alexopoulos, Panagiotis Hampel, Harald Peters, Annette Gieger, Christian Rujescu, Dan Diehl-Schmid, Janine Winkelmann, Juliane Hum Genome Var Data Report Recently, mutations in phospholipase D3 (PLD3) were reported in late-onset Alzheimer's disease (AD). By screening the coding regions of PLD3 for variants in a European cohort of 1,089 AD cases, 182 individuals with frontotemporal lobar degeneration and 1,456 controls, we identified 32 variants with a minor allele frequency <5% and observed an excess of rare variants in individuals with late- but not early-onset AD (P=0.034, χ (2)-test; odds ratio=1.46). Nature Publishing Group 2015-01-09 /pmc/articles/PMC4785568/ /pubmed/27081517 http://dx.doi.org/10.1038/hgv.2014.28 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0/
spellingShingle Data Report
Schulte, Eva C
Kurz, Alexander
Alexopoulos, Panagiotis
Hampel, Harald
Peters, Annette
Gieger, Christian
Rujescu, Dan
Diehl-Schmid, Janine
Winkelmann, Juliane
Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer’s disease
title Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer’s disease
title_full Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer’s disease
title_fullStr Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer’s disease
title_full_unstemmed Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer’s disease
title_short Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer’s disease
title_sort excess of rare coding variants in pld3 in late- but not early-onset alzheimer’s disease
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785568/
https://www.ncbi.nlm.nih.gov/pubmed/27081517
http://dx.doi.org/10.1038/hgv.2014.28
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