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

Genet Test. 2003 Winter;7(4):309-14. doi: 10.1089/109065703322783662.

Abstract

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.

MeSH terms

  • 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

Substances

  • Apolipoproteins E
  • Carrier Proteins
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • Receptor, Serotonin, 5-HT2A
  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins
  • Serotonin