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NEUROLOGY 2007;68:684-687
© 2007 American Academy of Neurology

Variations in the APP gene promoter region and risk of Alzheimer disease

L. Guyant-Maréchal, MD, A. Rovelet-Lecrux, PhD, L. Goumidi, PhD, E. Cousin, PhD, D. Hannequin, MD, G. Raux, PhD, C. Penet, RA, S. Ricard, PhD, S. Macé, PhD, P. Amouyel, PhD, J. -F. Deleuze, PhD, T. Frebourg, MD, PhD, A. Brice, MD, PhD, J. -C. Lambert, PhD and D. Campion, MD, PhD

From INSERM U614 (L.G.-M., A.R.-L., D.H., G.R., T.F., D.C.), Faculty of Medicine, IFRMP, Rouen, INSERM U 744 (L.G., P.A., J.-C.L.), Institut Pasteur, Lille, Sanofi-Aventis (E.C., S.R., S.M., J.-F.D.), Evry Genetics Center, and INSERM U 679 (C.P., A.B.), Hôpital de la Salpêtrière, Paris, France.

Address correspondence and reprint requests to Dr. D. Campion, INSERM U614, Faculty of Medicine, IFRMP, 76000 Rouen, France; e-mail: dominique.campion{at}univ-rouen.fr

We genotyped five polymorphisms, including two polymorphisms with known effects on transcriptional activity, in a large cohort of 427 Alzheimer disease (AD) cases and 472 control subjects. An association between rs463946 (–3102 G/C) and AD was found and was confirmed in a replication sample of a similar size. By contrast, analysis of three recently described rare mutations influencing APP transcription did not confirm their association with AD risk.

See also page 632

A.R.-L. was supported by a grant from Conseil Regional Haute Normandie.

Disclosure: The authors report no conflicts of interest.

Received September 8, 2006. Accepted in final form December 4, 2006.


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J. Hardy and A. Myers
Genetic variability in expression of proteins and the risk of sporadic neurologic diseases
Neurology, February 27, 2007; 68(9): 632 - 633.
[Full Text] [PDF]