Transmembrane Protein 106B Gene (TMEM106B) Variability and Influence on Progranulin Plasma Levels in Patients with Alzheimer's Disease

Article type: Short Communication

Authors: Serpente, Maria^a | Fenoglio, Chiara^a | Clerici, Francesca^b | Bonsi, Rossana^a | Arosio, Beatrice^c | Cioffi, Sara M.G.^a | Rotondo, Emanuela^a | Franceschi, Massimo^d | Boneschi, Filippo Martinelli^e | Mari, Daniela^c | Mariani, Claudio^b | Scarpini, Elio^{a; 1} | Galimberti, Daniela^{a; *; 1}

Affiliations: [a] Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy | [b] Center for Research and Treatment on Cognitive Dysfunctions, Chair of Neurology, University of Milan, “Luigi Sacco” Hospital, Milan, Italy | [c] Geriatric Unit, Department of Clinical Sciences and Community Health, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy | [d] IRCCS Multimedica, Milan, Italy | [e] Laboratory of Neurological Complex disorders, Department of Neuro-rehabilitation & INSPE, Scientific Institute San Raffaele, Milan, Italy

Correspondence: [*] Correspondence to: Daniela Galimberti, Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy. Tel.: +39 0255033847; Fax: +39 0255036580; E-mail: [email protected].

Note: [1] These authors contributed equally to this work.

Abstract: We carried out an association study of transmembrane protein 106B gene (TMEM106B) rs1020004 A/G, rs6966915C/T, and rs1990622 A/G in a population of 656 patients with Alzheimer's disease (AD) and 619 controls, and tested whether the rs1990622 influences plasma progranulin levels. No differences in allele and genotype distribution were observed between cases and controls, even stratifying according to APOE status (p > 0.05). No differences in progranulin plasma levels were found between carriers of the rs1990622 and non-carriers. TMEM106b variability does not influence AD risk or plasma levels. Replication, preferably in a population with pathological confirmation, is required to confirm these results.

Keywords: Alzheimer's disease, progranulin, TDP-43, TMEM106b

DOI: 10.3233/JAD-141167

Journal: Journal of Alzheimer's Disease, vol. 43, no. 3, pp. 757-761, 2015