Serotonin transporter and saitohin genes in risk of Alzheimer's disease and frontotemporal lobar dementia: preliminary findings

Neurol Sci. 2010 Dec;31(6):741-9. doi: 10.1007/s10072-010-0400-8. Epub 2010 Sep 18.

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.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / epidemiology
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / metabolism*
  • Case-Control Studies
  • Female
  • Frontotemporal Dementia / epidemiology
  • Frontotemporal Dementia / genetics*
  • Frontotemporal Dementia / metabolism*
  • Genetic Predisposition to Disease*
  • Humans
  • Italy / epidemiology
  • Male
  • Polymorphism, Genetic
  • Risk Factors
  • Serotonin Plasma Membrane Transport Proteins / genetics*
  • Signal Transduction / genetics
  • tau Proteins / genetics*

Substances

  • SLC6A4 protein, human
  • STH protein, human
  • Serotonin Plasma Membrane Transport Proteins
  • tau Proteins