Serotoninergic polymorphisms (5-HTTLPR and 5-HT2A): association studies with psychosis in Alzheimer disease

• Published in: Genetic testing Vol. 7; no. 4; p. 309
• Main Authors: Rocchi, A, Micheli, D, Ceravolo, R, Manca, M L, Tognoni, G, Siciliano, G, Murri, L
• Format: Journal Article
• Language: English
• Published: United States 01.12.2003
• Subjects: Aged; Alzheimer Disease - complications; Alzheimer Disease - drug therapy; Alzheimer Disease - genetics; Apolipoproteins E - genetics; Carrier Proteins - genetics; Case-Control Studies; Female; Genetic Predisposition to Disease; Humans; Italy; Male; Membrane Glycoproteins - genetics; Membrane Transport Proteins; Nerve Tissue Proteins - genetics; Polymorphism, Genetic; Psychotic Disorders - etiology; Psychotic Disorders - genetics; Receptor, Serotonin, 5-HT2A - genetics; Serotonin - genetics; Serotonin Plasma Membrane Transport Proteins; Italy
• ISSN: 1090-6576
• DOI: 10.1089/109065703322783662

Patients with Alzheimer disease (AD) often exhibit psychotic symptoms associated with cognitive impairment. A few association studies have been carried out to determine if the serotonin transporter and receptor genes are potential risk factors for AD and/or associated psychopathology. The aim of this study was to investigate the association of a serotonin transporter gene-linked polymorphic region (5-HTTLPR) and the 5-HT2A receptor T102C polymorphism with the risk of developing dementia and/or psychotic symptoms in a group of sporadic AD patients from Italy. No significant differences in the distribution of allele and genotype frequencies of 5-HTTLPR and 5-HT2A T102C were found between patient and control groups. However, a significant association between the C102/C102 5-HT2A genotype and psychotic symptoms (p < 0.001) was observed. Our data strongly confirm results from previous studies suggesting that the C102 allele of the 5-HT2A receptor is associated with the occurrence of psychotic symptoms in AD. On the contrary, the serotonin transporter does not appear to be a major susceptibility factor in the pathophysiology of the disease.