Failure to Replicate an Association of rs5984894 SNP in the PCDH11X Gene in a Collection of 1,222 Alzheimer's Disease Affected Patients

Article type: Short Communication

Authors: Lescai, Francesco^{a; b; c; *} | Pirazzini, Chiara^{b; c} | D'Agostino, Giuseppe^c | Santoro, Aurelia^{b; c} | Ghidoni, Roberta^{d; e} | Benussi, Luisa^d | Galimberti, Daniela^f | Federica, Esposito^g | Marchegiani, Francesca^h | Cardelli, Maurizio^h | Olivieri, Fabiola^h | Nacmias, Benedettaⁱ | Sorbi, Sandroⁱ | Bagnoli, Silviaⁱ | Tagliavini, Fabrizio^j | Albani, Diego^k | Boneschi, Filippo Martinelli^g | Binetti, Giuliano^d | Forloni, Gianluigi^k | Quadri, Pierluigi^l | Scarpini, Elio^f | Franceschi, Claudio^{b; c}

Affiliations: [a] Division of Research Strategy, University College London, London, UK | [b] CIG – Interdepartmental Centre “L. Galvani” for Biocomplexity, Alma Mater Studiorum Università di Bologna, Bologna, Italy | [c] Department of Experimental Pathology, Alma Mater Studiorum Università di Bologna, Bologna, Italy | [d] NeuroBioGen Lab-Memory Clinic, IRCCS “Centro S.Giovanni di Dio-Fatebenefratelli”, Brescia, Italy | [e] Proteomics Unit, IRCCS “Centro S.Giovanni di Dio-Fatebenefratelli”, Brescia, Italy | [f] Department of Neurological Sciences, Centro Dino Ferrari, University of Milan, Fondazione IRCCS Fondazione Ospedale Maggiore Policlinico, Milan, Italy | [g] Institute of Experimental Neurology (INSPE) and Department of Neurology, San Raffaele Scientific Institute, Milan, Italy | [h] Italian National Research Center for Aging I.N.R.C.A., Ancona, Italy | [i] Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy | [j] Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy | [k] “Mario Negri” Institute for Pharmacological Research, Milan, Italy | [l] Geriatric Division, Ospedali Regionali of Lugano and Mendrisio, Mendrisio, Switzerland

Correspondence: [*] Correspondence to: Francesco Lescai, PhD, EDBT, UCL Division of Research Strategy, c/o Cancer Institute, Paul O'Gorman Building, University College London, Gower Street, London WC1E 6BT, UK. Tel.: +44 (0)20 7679 6812; E-mail: f.lescai@ucl.ac.uk.

Note: [] Handling Associate Editor: Amalia Bruni

Abstract: A recent genome-wide study on late-onset Alzheimer's disease identified a SNP (rs5984894) on Xq21.3 in the PCDH11X gene strongly associated with LOAD individuals of European descent from the United States. We genotyped the same polymorphism in 1222 cases and 938 controls from central-northern Italy and could not confirm the association on the Italian population: multivariate logistic regression adjusted for gender and APOE ε4 allele resulted in a global p value of 0.56.

Keywords: Alzheimer's disease, APOE, genetics, replication

DOI: 10.3233/JAD-2010-091516

Journal: Journal of Alzheimer's Disease, vol. 21, no. 2, pp. 385-388, 2010