Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy.
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.
Albani
Diego
D
Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156, Milan, Italy. albani@marionegri.it.
Prato
Francesca
F
Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156, Milan, Italy.
Fenoglio
Chiara
C
Department of Neurological Sciences, "Dino Ferrari" Center, "Ospedale Maggiore Policlinico", University of Milan, via F. Sforza, 35, 20122, Milan, Italy.
Batelli
Sara
S
Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156, Milan, Italy.
Dusi
Sabrina
S
Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156, Milan, Italy.
De Mauro
Stefania
S
Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156, Milan, Italy.
Polito
Letizia
L
Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156, Milan, Italy.
Lovati
Carlo
C
Neurology Unit, "Luigi Sacco" Hospital, University of Milan, via G.B. Grassi 74, 20157, Milan, Italy.
Galimberti
Daniela
D
Department of Neurological Sciences, "Dino Ferrari" Center, "Ospedale Maggiore Policlinico", University of Milan, via F. Sforza, 35, 20122, Milan, Italy.
Mariani
Claudio
C
Neurology Unit, "Luigi Sacco" Hospital, University of Milan, via G.B. Grassi 74, 20157, Milan, Italy.
Scarpini
Elio
E
Department of Neurological Sciences, "Dino Ferrari" Center, "Ospedale Maggiore Policlinico", University of Milan, via F. Sforza, 35, 20122, Milan, Italy.
Forloni
Gianluigi
G
Department of Neuroscience, "Mario Negri" Institute for Pharmacological Research, via La Masa 19, 20156, Milan, Italy.
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*
D001057:Apolipoproteins E; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins