title: Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy.
abstract: Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disorder characterized by behavioral and language disturbances. We performed a case-control association study in the Italian population to assess the relevance for FTLD genetic susceptibility of the serotonin (5-HT) transporter gene-linked polymorphic region [rs4795541, alias short (S)/long (L)] an in/del polymorphism of the promoter region of the gene coding for the 5-HT transporter (SLC6A4). This functional polymorphism was reported to influence the SLC6A4 transcription rate, with the S-allele having a two-fold reduced efficiency. We collected 225 independent subjects (74 sporadic FTLD and 151 age-matched healthy controls, CT) that were genotyped for the rs4795541, the SLC6A4 single nucleotide polymorphisms (SNP) rs25531 and rs6354, and the apolipoprotein E (APOE) allelic variants. A significant correlation [P = 0.018, OR (95% CI): 2.1 (1.1-3.9)] between rs4795541 S-allele presence and FTLD susceptibility was found. In summary, the rs4795541 might be important for FTLD susceptibility in the Italian population.
authors.affiliation: Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156, Milan, Italy. albani@marionegri.it.
authors.forename: Diego
authors.initials: D
authors.lastname: Albani
authors.affiliation: Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156, Milan, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Prato
authors.affiliation: Department of Neurological Sciences, "Dino Ferrari" Center, "Ospedale Maggiore Policlinico", University of Milan, via F. Sforza, 35, 20122, Milan, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Fenoglio
authors.affiliation: Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156, Milan, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Batelli
authors.affiliation: Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156, Milan, Italy.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Dusi
authors.affiliation: Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156, Milan, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: De Mauro
authors.affiliation: Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156, Milan, Italy.
authors.forename: Letizia
authors.initials: L
authors.lastname: Polito
authors.affiliation: Neurology Unit, "Luigi Sacco" Hospital, University of Milan, via G.B. Grassi 74, 20157, Milan, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Lovati
authors.affiliation: Department of Neurological Sciences, "Dino Ferrari" Center, "Ospedale Maggiore Policlinico", University of Milan, via F. Sforza, 35, 20122, Milan, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.affiliation: Neurology Unit, "Luigi Sacco" Hospital, University of Milan, via G.B. Grassi 74, 20157, Milan, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Mariani
authors.affiliation: Department of Neurological Sciences, "Dino Ferrari" Center, "Ospedale Maggiore Policlinico", University of Milan, via F. Sforza, 35, 20122, Milan, Italy.
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.affiliation: Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156, Milan, Italy.
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Forloni
mesh_terms: D000368:Aged; D001057:Apolipoproteins E / Q000235:genetics*; D016022:Case-Control Studies; D003704:Dementia / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins