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Article Dans Une Revue Human Genome Variation Année : 2015

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

Résumé

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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Dates et versions

hal-01120238 , version 1 (25-02-2015)

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Eva C Schulte, Alexander Kurz, Panagiotis Alexopoulos, Harald Hampel, Annette Peters, et al.. Excess of rare coding variants in PLD3 in late-but not early-onset Alzheimer's disease. Human Genome Variation, 2015, 2, pp.14028. ⟨10.1038/hgv.2014.28⟩. ⟨hal-01120238⟩
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