title: Serotonin transporter and saitohin genes in risk of Alzheimer's disease and frontotemporal lobar dementia: preliminary findings.
abstract: Serotonergic transmission impairment and abnormal phosphorylation of tau protein have been implicated in the physiopathology of Alzheimer's disease (AD) and frontotemporal lobar dementia (FTLD). Associations between a functional polymorphism (5-HTTLPR), in the promoter region of the serotonin transporter gene, and susceptibility to sporadic AD and FTLD have been reported. A polymorphism (Q7R) in saitohin gene inside the microtubule-associated protein tau gene has also been related to dementia. To determine the possible role of the two polymorphisms in susceptibility to AD and FTLD, we performed a case-control study collecting 218 Italian sporadic dementia patients and 54 controls. We found a significant excess of 5-HTTLPR short alleles and an interaction between 5-HTTLPR and Q7R polymorphisms in demented subjects. Our study confirms the role of 5-HTTLPR as a potential susceptibility factor for sporadic dementia in the Italian population, and suggests a possible interaction between 5-HTTLPR and Q7R polymorphisms in neurodegenerative diseases.
authors.affiliation: Clinical Neurosciences Department, San Raffaele Turro Hospital, Vita-Salute San Raffaele University, via Stamira D'Ancona 20, Milan, Italy. lorenzi.cristina@hsr.it
authors.forename: Cristina
authors.initials: C
authors.lastname: Lorenzi
authors.forename: Alessandra
authors.initials: A
authors.lastname: Marcone
authors.forename: Adele
authors.initials: A
authors.lastname: Pirovano
authors.forename: Elena
authors.initials: E
authors.lastname: Marino
authors.forename: Francesco
authors.initials: F
authors.lastname: Cordici
authors.forename: Chiara
authors.initials: C
authors.lastname: Cerami
authors.forename: Dario
authors.initials: D
authors.lastname: Delmonte
authors.forename: Stefano F
authors.initials: SF
authors.lastname: Cappa
authors.forename: Placido
authors.initials: P
authors.lastname: Bramanti
authors.forename: Enrico
authors.initials: E
authors.lastname: Smeraldi
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism*; D016022:Case-Control Studies; D005260:Female; D057180:Frontotemporal Dementia / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D011110:Polymorphism, Genetic; D012307:Risk Factors; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics; D016875:tau Proteins / Q000235:genetics*
chemical_list: C493230:SLC6A4 protein, human; C458340:STH protein, human; D050486:Serotonin Plasma Membrane Transport Proteins; D016875:tau Proteins