We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Neuronal nitric oxide synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration.
- Authors
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.
- 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.
- Subjects
NEURODEGENERATION; CEREBRAL cortex; PROGRESSIVE supranuclear palsy; NUCLEOTIDES; APOLIPOPROTEINS; GENOTYPE-environment interaction
- Publication
European Journal of Neurology, 2008, Vol 15, Issue 1, p77
- ISSN
1351-5101
- Publication type
Article
- DOI
10.1111/j.1468-1331.2007.02007.x