title: Polymorphism C in the serotonin transporter gene (SLC6A4) in questionable dementia and Alzheimer's disease.
abstract: The promoter region of the serotonin transporter gene (SLC6A4) shows a 22-bp tandem repeat polymorphism, indicated as polymorphism C, that has been associated to depression, obsessive-compulsive disorder, memory impairment, and anxiety. Less clear are data regarding its association with Alzheimer's disease (AD). No data were reported regarding its association with questionable dementia (QD). In this study we investigate for polymorphism C in the SLC6A4 gene 302 elderly subjects with a clinical diagnosis of AD (n=105), QD (n=88) and no cognitive impairment (n=114) attending a geriatric ward. A community-dwelling sample of 390 healthy subjects was also included in the analysis. A significant higher prevalence of the C16/C16 genotype in AD than in QD was observed (37.14% vs. 3%; p=0.041, OR 2.001, 95%CI 1.018-4.024), while no differences in the C16/C14 and C14/C14 genotypes as well as in the estimated allele frequencies were found. No further differences among the three groups of subjects were found, also when they were compared with the community-dwelling sample. These findings suggest that SLC6A4 gene variation may have only a minor role, if any, in AD or QD.
authors.affiliation: Geriatric Unit & Gerontology-Geriatrics Research Laboratory, Department of Medical Sciences, IRCCS Casa Sollievo della Sofferenza, Viale Cappuccini 1, 71013 San Giovanni Rotondo (FG), Italy. dseripa@operapadrepio.it
authors.forename: Davide
authors.initials: D
authors.lastname: Seripa
authors.forename: Marilisa
authors.initials: M
authors.lastname: Franceschi
authors.forename: Grazia
authors.initials: G
authors.lastname: D'Onofrio
authors.forename: Francesco
authors.initials: F
authors.lastname: Panza
authors.forename: Leandro
authors.initials: L
authors.lastname: Cascavilla
authors.forename: Francesco
authors.initials: F
authors.lastname: Paris
authors.forename: Giuliana
authors.initials: G
authors.lastname: Placentino
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Matera
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Solfrizzi
authors.forename: Alberto
authors.initials: A
authors.lastname: Pilotto
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D003704:Dementia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D012189:Retrospective Studies; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*; D018709:Statistics, Nonparametric; D020080:Tandem Repeat Sequences / Q000235:genetics
chemical_list: C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins