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Schulte, E.C. ; Kurz, A.* ; Alexopoulos, P.* ; Hampel, H.* ; Peters, A. ; Gieger, C. ; Rujescu, D.* ; Diehl-Schmid, J.* ; Winkelmann, J.

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

Hum. Genome Var. 2:14028 (2015)
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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, χ2-test; odds ratio=1.46).
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
e-ISSN 2054-345X
Journal Human Genome Variation
Quellenangaben Volume: 2, Issue: , Pages: , Article Number: 14028 Supplement: ,
Publisher Nature Publishing Group
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Epidemiology II (EPI2)