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

ABSTRACT: 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, ? (2)-test; odds ratio=1.46).

SUBMITTER: Schulte EC 

PROVIDER: S-EPMC4785568 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature