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Neuronal nitric oxide synthase C276T polymorphism increases the risk for Frontotemporal Lobar Degeneration
- Publication Year :
- 2007
-
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. © 2007 The Author(s).
- Subjects :
- Apolipoprotein E
Genetic Markers
Male
Pathology
medicine.medical_specialty
Genotype
NOS1
DNA Mutational Analysis
Single-nucleotide polymorphism
Nitric Oxide Synthase Type I
Frontotemporal lobar degeneration
Gene Expression Regulation, Enzymologic
Progressive supranuclear palsy
DNA Mutational Analysi
Gene Frequency
Risk Factors
Genetic Marker
Medicine
Corticobasal degeneration
Humans
Genetic Predisposition to Disease
Genetic Testing
Allele
Polymorphism
Allele frequency
Neuronal nitric oxide synthase
Aged
Neurons
Polymorphism, Genetic
business.industry
Brain
Middle Aged
Neuron
medicine.disease
Neurology
Dementia
Female
Settore MED/26 - Neurologia
Neurology (clinical)
Risk factor
business
Human
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....aa3c0b9f1a21c96ff134ca9c9a57dba7