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

Eur J Neurol. 2008 Jan;15(1):77-81. doi: 10.1111/j.1468-1331.2007.02007.x. Epub 2007 Nov 27.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Brain / enzymology*
  • Brain / physiopathology
  • DNA Mutational Analysis
  • Dementia / enzymology*
  • Dementia / genetics*
  • Dementia / physiopathology
  • Female
  • Gene Expression Regulation, Enzymologic / genetics
  • Gene Frequency / genetics
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Neurons / enzymology
  • Nitric Oxide Synthase Type I / genetics*
  • Polymorphism, Genetic / genetics*
  • Risk Factors

Substances

  • Genetic Markers
  • Nitric Oxide Synthase Type I