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, χ2-test; odds ratio = 1.46).