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  • Brief Communications Arising
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PLD3 and sporadic Alzheimer's disease risk

Nature volume 520, page E1 (2015)Cite this article

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arising from C. Cruchaga et al. Nature 505, 550–554 (2014); doi:10.1038/nature12825

Recently, Cruchaga et al. described the association of rare variants in the phospholipase D3 gene (PLD3) with the risk of developing Alzheimer's disease1; this observation resulted from a strategy based on whole exome sequencing of late-onset Alzheimer's disease familial forms. A missense substitution, Val232Met (rs145999145), was reported to co-segregate with Alzheimer's disease in two families and was further associated with Alzheimer's disease risk; in addition to Val232Met, two other PLD3 variants, Ala442Ala (rs4819) and Met6Arg, were reported to be nominally associated with Alzheimer's disease risk. We were not able to replicate the association of these variants with the risk of sporadic Alzheimer's disease in a large case–control study. Our data suggest that PLD3 is at best a minor genetic risk factor of sporadic Alzheimer's disease. There is a Reply to this Brief Communication Arising by Cruchaga, C. & Goate, A. M. Nature 520, http://dx.doi.org/10.1038/nature14037 (2015).

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References

  1. Cruchaga, C. et al. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature 505, 550–554 (2014)

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Authors and Affiliations

  1. INSERM, U744, Université Lille 2, Institut Pasteur de Lille, Lille, 59000, France

    Jean-Charles Lambert, Benjamin Grenier-Boley, Céline Bellenguez & Philippe Amouyel

  2. CNR-MAJ, Centre Hospitalier Régional Universitaire de Lille, Université Lille 2, Lille, 59000, France

    Florence Pasquier

  3. CNR-MAJ, INSERM, U1079, Rouen University Hospital, Rouen, 76031, France

    Dominique Campion

  4. Inserm U897, Victor Segalen University, Bordeaux, 33076, France

    Jean-Francois Dartigues

  5. INSERM, U1061, Faculty of Medicine, Hôpital La Colombière, 34093, Montpellier, France

    Claudine Berr

  6. INSERM, U708, Victor Segalen University, Bordeaux, France

    Christophe Tzourio

Authors
  1. Jean-Charles Lambert
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  2. Benjamin Grenier-Boley
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  3. Céline Bellenguez
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  4. Florence Pasquier
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  5. Dominique Campion
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  6. Jean-Francois Dartigues
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  7. Claudine Berr
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  8. Christophe Tzourio
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  9. Philippe Amouyel
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Contributions

Data analyses: J.-C.L., B.G.-B., C.B; sample collection: F.P., D.C., J.-F.D., C.B., C.T.; manuscript writing: J.-C.L., P.A.

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Correspondence to Jean-Charles Lambert.

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Lambert, JC., Grenier-Boley, B., Bellenguez, C. et al. PLD3 and sporadic Alzheimer's disease risk. Nature 520, E1 (2015). https://doi.org/10.1038/nature14036

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