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

Cristina Lorenzi, Alessandra Marcone, Adele Pirovano, Elena Marino, Francesco Cordici, Chiara Cerami, Dario Delmonte, Stefano F. Cappa, Placido Bramanti, Enrico Smeraldi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)741-749
Number of pages9
JournalNeurological Sciences
Volume31
Issue number6
DOIs
Publication statusPublished - Dec 2010

Keywords

  • Case-control study
  • Dementia
  • Genetics
  • Saitohin
  • Serotonin
  • Serotonin transporter

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology

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