Neural nitric oxide Synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration
Articolo
Data di Pubblicazione:
2008
Citazione:
Neural 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. - In: EUROPEAN JOURNAL OF NEUROLOGY. - ISSN 1351-5101. - 15:1(2008 Jan), pp. 77-81. ((Intervento presentato al 43. convegno Annual Meeting of the Italian Association of Neuropathology (AINP) : Meeting of the Italian Association for the research on Brain Aging (AIRIC) tenutosi a Verona nel 2007 [10.1111/j.1468-1331.2007.02007.x].
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
corticobasal degeneration; frontotemporal lobar degeneration; neuronal nitric oxide synthase; polymorphism; progressive supranuclear palsy; risk factor
Elenco autori:
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
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