Alzheimer's Disease and Neurotransmission Gene Variants: Focus on Their Effects on Psychiatric Comorbidities and Inflammatory Parameters

Stefano Porcelli, Marco Calabrò, Concetta Crisafulli, Antonis Politis, Ioannis Liappas, Diego Albani, Ilaria Raimondi, Gianluigi Forloni, Francesco Benedetti, George N Papadimitriou, Alessandro Serretti

Research output: Contribution to journalArticlepeer-review


BACKGROUND: Alzheimer's disease (AD) is a neurodegenerative disorder accounting for 60-70% of dementia cases. Genetic origin accounts for 49-79% of disease risk. This paper aims to investigate the association of 17 polymorphisms within 7 genes involved in neurotransmission (COMT, HTR2A, PPP3CC, RORA, SIGMAR1, SIRT1, and SORBS3) and AD.

METHODS: A Greek and an Italian sample were investigated, for a total of 156 AD subjects and 301 healthy controls. Exploratory analyses on psychosis and depression comorbidities were performed, as well as on other available clinical and serological parameters.

RESULTS: AD was associated with rs4680 within the COMT gene in the total sample. Trends of association were found in the 2 subsamples. Some nominal associations were found for the depressive phenotype. rs10997871 and rs10997875 within SIRT1 were nominally associated with depression in the total sample and in the Greek subsample. rs174696 within COMT was associated with depression comorbidity in the Italian subsample.

DISCUSSION: Our data support the role of COMT, and particularly of rs4680, in the pathogenesis of AD. Furthermore, the SIRT1 gene seems to modulate depressive symptomatology in the AD population.

Original languageEnglish
Pages (from-to)79-85
Number of pages7
Issue number2
Publication statusPublished - 2019


  • Aged
  • Aged, 80 and over
  • Alzheimer Disease/epidemiology
  • Case-Control Studies
  • Catechol O-Methyltransferase/genetics
  • Comorbidity
  • Female
  • Genetic Predisposition to Disease/genetics
  • Greece/epidemiology
  • Humans
  • Inflammation/epidemiology
  • Italy/epidemiology
  • Male
  • Mental Disorders/epidemiology
  • Polymorphism, Single Nucleotide/genetics
  • Sirtuin 1/genetics
  • Synaptic Transmission/genetics


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