Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's disease.
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ABSTRACT:
SUBMITTER: Schulte EC
PROVIDER: S-EPMC4785568 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Publications
Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's disease.
Schulte Eva C EC Kurz Alexander A Alexopoulos Panagiotis P Hampel Harald H Peters Annette A Gieger Christian C Rujescu Dan D Diehl-Schmid Janine J Winkelmann Juliane J
Human genome variation 20150109
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). ...[more]
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