title: The serotonin transporter promoter polymorphic region is not a risk factor for Alzheimer's disease related behavioral disturbances.
abstract: Alzheimer's disease (AD) is a neurodegenerative disorder characterized by memory loss and often accompanied during its progression by behavioral and psychological symptoms of dementia (BPSD). We decided to evaluate the association between AD-related behavioral disturbances and the short/long (S/L) polymorphism of the promoter region of the 5-hydroxytryptamine (5-HT) transporter gene (SLC6A4). This functional polymorphism modulates SLC6A4 transcription rate, with the S-allele having a 2-fold reduced efficiency, leading to a diminished availability of 5-HT that might in turn trigger behavioral and cognitive alterations. The SLC6A4 promoter functional single nucleotide polymorphism rs25531 (A-->G) was genotyped as well. We collected 235 sporadic AD subjects that were classified as AD with (n = 122) or without (n = 113) behavioral alterations, assessed with the Spontaneous Behavior Interview scale, section Behavioral Problems (SBI-BP). Comparing the genotypic and allelic frequencies of AD without and with BPSD, we did not find a difference for the 5-HTTLPR or the rs25531, even after stratification according to single SBI-BP item. We conclude that 5-HTTLPR and rs25531 are not major genetic modulators of BPSD development in AD.
authors.affiliation: Department of Neuroscience, Mario Negri Institute for Pharmacological Research, Milan, Italy. albani@marionegri.it
authors.forename: Diego
authors.initials: D
authors.lastname: Albani
authors.forename: Francesca
authors.initials: F
authors.lastname: Prato
authors.forename: Mauro
authors.initials: M
authors.lastname: Tettamanti
authors.forename: Carlo
authors.initials: C
authors.lastname: Lovati
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.forename: Ilaria
authors.initials: I
authors.lastname: Restelli
authors.forename: Claudio
authors.initials: C
authors.lastname: Mariani
authors.forename: Pier Luigi
authors.initials: PL
authors.lastname: Quadri
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.forename: Ugo
authors.initials: U
authors.lastname: Lucca
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Forloni
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000150:complications / Q000235:genetics* / Q000523:psychology; D001526:Behavioral Symptoms / Q000209:etiology* / Q000235:genetics / Q000523:psychology; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012307:Risk Factors; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*
chemical_list: D050486:Serotonin Plasma Membrane Transport Proteins