The NOS3 G894T (Glu298Asp) polymorphism is a risk factor for frontotemporal lobar degeneration

E. Venturelli, C. Villa, C. Fenoglio, F. Clerici, A. Marcone, R. Ghidoni, F. Cortini, D. Scalabrini, S. Gallone, I. Rainero, A. Mandelli, I. Restelli, G. Binetti, S. Cappa, C. Mariani, M. T. Giordana, N. Bresolin, E. Scarpini, D. Galimberti

Research output: Contribution to journalArticlepeer-review


Background and aims: Neuronal nitric oxide synthase (NOS)1 C276T polymorphism was shown to increase the risk for frontotemporal lobar degeneration (FTLD). In the brain, both NOS1 and NOS3 (endothelial isoform) have been detected. The distribution of NOS3 G894T (Glu298Asp) and T-786C single nucleotide polymorphisms (SNPs) was analyzed in a population of 222 patients with FTLD compared with 218 age-matched controls to determine whether they could influence the susceptibility to develop the disease. Results: A statistically significant increased frequency of the NOS3 G894T SNP was observed in patients as compared with controls (40.0 vs. 31.4%, P = 0.011, OR: 1.65, CI: 1.13-2.42). Conversely, the distribution of the T-786C SNP was similar in patients and controls. No differences were observed stratifying according to gender. Discussion: The NOS3 G894T polymorphism likely acts as risk factor for sporadic FTLD, but studies in larger populations are needed to confirm these preliminary findings.

Original languageEnglish
Pages (from-to)37-42
Number of pages6
JournalEuropean Journal of Neurology
Issue number1
Publication statusPublished - Jan 2009


  • Allelic variant
  • Endothelial nitric oxide synthase
  • Polymorphism
  • Risk factor
  • Sporadic frontotemporal lobar degeneration

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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