Serotonin transporter and saitohin genes in risk of Alzheimer's disease and frontotemporal lobar dementia: preliminary findings.
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.
Lorenzi
Cristina
C
Clinical Neurosciences Department, San Raffaele Turro Hospital, Vita-Salute San Raffaele University, via Stamira D'Ancona 20, Milan, Italy. lorenzi.cristina@hsr.it
Marcone
Alessandra
A
Pirovano
Adele
A
Marino
Elena
E
Cordici
Francesco
F
Cerami
Chiara
C
Delmonte
Dario
D
Cappa
Stefano F
SF
Bramanti
Placido
P
Smeraldi
Enrico
E
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*
C493230:SLC6A4 protein, human; C458340:STH protein, human; D050486:Serotonin Plasma Membrane Transport Proteins; D016875:tau Proteins