Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy

Diego Albani, Francesca Prato, Chiara Fenoglio, Sara Batelli, Sabrina Dusi, Stefania De Mauro, Letizia Polito, Carlo Lovati, Daniela Galimberti, Claudio Mariani, Elio Scarpini, Gianluigi Forloni

Research output: Contribution to journalArticle


Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disorder characterized by behavioral and language disturbances. We performed a case-control association study in the Italian population to assess the relevance for FTLD genetic susceptibility of the serotonin (5-HT) transporter gene-linked polymorphic region [rs4795541, alias short (S)/long (L)] an in/del polymorphism of the promoter region of the gene coding for the 5-HT transporter (SLC6A4). This functional polymorphism was reported to influence the SLC6A4 transcription rate, with the S-allele having a two-fold reduced efficiency. We collected 225 independent subjects (74 sporadic FTLD and 151 age-matched healthy controls, CT) that were genotyped for the rs4795541, the SLC6A4 single nucleotide polymorphisms (SNP) rs25531 and rs6354, and the apolipoprotein E (APOE) allelic variants. A significant correlation [P = 0.018, OR (95% CI): 2.1 (1.1-3.9)] between rs4795541 S-allele presence and FTLD susceptibility was found. In summary, the rs4795541 might be important for FTLD susceptibility in the Italian population.

Original languageEnglish
Pages (from-to)1029-1033
Number of pages5
JournalJournal of Human Genetics
Issue number11-12
Publication statusPublished - Dec 2008



  • Apolipoprotein E
  • Frontotemporal dementia
  • Genetics
  • Serotonin
  • Serotonin transporter

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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