Neuronal nitric oxide synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration

E. Venturelli, C. Villa, E. Scarpini, C. Fenoglio, I. Guidi, C. Lovati, A. Marcone, F. Cortini, D. Scalabrini, F. Clerici, N. Bresolin, C. Mariani, S. Cappa, D. Galimberti

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

The neuronal nitric oxide synthase (nNOS) is abundantly expressed in the brain and its transcripts have been found in the frontal cerebral cortex. Eighty-nine patients with different neurodegenerative tau-related disorders, including 71 patients with frontotemporal lobar degeneration (FTLD), 12 with progressive supranuclear palsy (PSP) and 6 with corticobasal degeneration (CBD), were genotyped for the C276T single nucleotide polymorphism (SNP) in exon 29 of the nNOS gene and compared with 190 age-matched controls (CON). A significantly increased allelic frequency of the T allele was observed in patients compared with CON (40.4% vs. 29.7%, P = 0.014, OR: 1.94, CI: 1.15-3.27). Considering each disorder separately, significance was reached for FTLD only (39.4%, P = 0.0248 versus controls, OR: 1.96, CI: 1.11-3.47). However, the frequency of the T allele was elevated also in patients with PSP (45.8%) and CBD (41.7%). No differences were observed stratifying according to gender or apolipoprotein E status. The C276T SNP acts as risk factor for sporadic FTLD, possibly influencing NOS1 transcription. Studies in larger populations are needed to confirm its role in PSP and CBD.

Original languageEnglish
Pages (from-to)77-81
Number of pages5
JournalEuropean Journal of Neurology
Volume15
Issue number1
DOIs
Publication statusPublished - Jan 2008

Fingerprint

Frontotemporal Lobar Degeneration
Nitric Oxide Synthase Type I
Progressive Supranuclear Palsy
Gene Frequency
Single Nucleotide Polymorphism
Frontal Lobe
Apolipoproteins E
Cerebral Cortex
Exons
Brain
Population
Genes

Keywords

  • Corticobasal degeneration
  • Frontotemporal lobar degeneration
  • Neuronal nitric oxide synthase
  • Polymorphism
  • Progressive supranuclear palsy
  • Risk factor

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Neuronal nitric oxide synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration. / Venturelli, E.; Villa, C.; Scarpini, E.; Fenoglio, C.; Guidi, I.; Lovati, C.; Marcone, A.; Cortini, F.; Scalabrini, D.; Clerici, F.; Bresolin, N.; Mariani, C.; Cappa, S.; Galimberti, D.

In: European Journal of Neurology, Vol. 15, No. 1, 01.2008, p. 77-81.

Research output: Contribution to journalArticle

Venturelli, E. ; Villa, C. ; Scarpini, E. ; Fenoglio, C. ; Guidi, I. ; Lovati, C. ; Marcone, A. ; Cortini, F. ; Scalabrini, D. ; Clerici, F. ; Bresolin, N. ; Mariani, C. ; Cappa, S. ; Galimberti, D. / Neuronal nitric oxide synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration. In: European Journal of Neurology. 2008 ; Vol. 15, No. 1. pp. 77-81.
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