FUS/TLS Genetic Variability in Sporadic Frontotemporal Lobar Degeneration

Article type: Research Article

Authors: Cantoni, Claudia^a | Fenoglio, Chiara^a | Cortini, Francesca^a | Venturelli, Eliana^a | Villa, Chiara^a | Clerici, Francesca^b | Marcone, Alessandra^c | Benussi, Luisa^d | Ghidoni, Roberta^{d; e} | Gallone, Salvatore^f | Scalabrini, Diego^a | Franceschi, Massimo^g | Cappa, Stefano^{c; h} | Binetti, Giuliano^d | Mariani, Claudio^b | Rainero, Innocenzo^f | Giordana, Maria Teresa^f | Bresolin, Nereo^a | Scarpini, Elio^a | Galimberti, Daniela^{a; *}

Affiliations: [a] Department of Neurological Sciences, “Dino Ferrari” Center, University of Milan, IRCCS Fondazione Ospedale Maggiore Policlinico, Milan, Italy | [b] Center for Research and Treatment on Cognitive Dysfunctions, University of Milan, “Luigi Sacco” Hospital, Milan, Italy | [c] Division of Neurology, San Raffaele Turro Hospital, San Raffaele Scientific Institute, Milan, Italy | [d] NeuroBioGen-Lab-Memory Clinic, IRCCS “Centro S. Giovanni di Dio-FBF”, Brescia, Italy | [e] Proteomics Unit, IRCCS “Centro S. Giovanni di Dio-FBF”, Brescia, Italy | [f] Department of Neuroscience, University of Turin, Turin, Italy | [g] Clinica Neurologica, Casa di Cura Santa Maria di Castellanza (Varese), Italy | [h] Vita-Salute San Raffaele University, Milan, Italy

Correspondence: [*] Correspondence to: Daniela Galimberti, Department of Neurological Sciences, “Dino Ferrari” Center, University of Milan, IRCCS Fondazione Ospedale Maggiore Policlinico, Milan, Italy. Tel.: +39 2 55033858; Fax: +39 2 50320430; E-mail: [email protected].

Note: [] Handling Associate Editor: Gabriella Marcon

Abstract: Two hundred and fifty one Italian patients with sporadic frontotemporal lobar degeneration (FTLD) and 259 age-matched controls were tested for association with the tagging single nucleotide polymorphisms (SNPs) rs741810 and rs1052352 in the fused in sarcoma/translated in liposarcoma gene (FUS/TLS). Only patients negative for GRN mutations were included. Considering each SNP alone, no differences in either allelic or genotypic frequencies between patients and controls were found (P > 0.05), even stratifying according to gender or the presence of concomitant motor neuron disease. Haplotype analysis failed to detect haplotypes associated with FTLD. According to these results, FUS/TLS is not a susceptibility factor for the development of sporadic FTLD.

Keywords: Frontotemporal lobar degeneration (FTLD), fused in sarcoma/translated in liposarcoma (FUS/TLS), polymorphism, risk factor, variability

DOI: 10.3233/JAD-2010-1328

Journal: Journal of Alzheimer's Disease, vol. 19, no. 4, pp. 1317-1322, 2010