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Updated: Jun 27, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The NOS3 G894T (Glu298Asp) polymorphism is a risk factor for frontotemporal lobar degeneration
E Venturelli1, C Villa, C Fenoglio
1Department of Neurological Sciences, 'Dino Ferrari' Center, University of Milan, IRCCS Fondazione Ospedale Maggiore Policlinico, Milan, Italy.
European Journal of Neurology
|December 18, 2008
Summary
The NOS3 G894T gene variant may increase the risk of developing frontotemporal lobar degeneration (FTLD). This finding suggests a potential genetic factor in FTLD susceptibility.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Neuronal nitric oxide synthase (NOS)1 C276T polymorphism is linked to increased frontotemporal lobar degeneration (FTLD) risk.
- Both NOS1 and NOS3 (endothelial isoform) are present in the brain.
- The role of NOS3 gene variations in FTLD susceptibility requires investigation.
Purpose of the Study:
- To analyze the distribution of NOS3 G894T and T-786C single nucleotide polymorphisms (SNPs) in FTLD patients and controls.
- To determine if these NOS3 SNPs influence susceptibility to developing sporadic FTLD.
Main Methods:
- Case-control study design.
- Genotyping of 222 FTLD patients and 218 age-matched controls for NOS3 G894T and T-786C SNPs.
- Statistical analysis to compare SNP frequencies between groups.
Main Results:
- A statistically significant higher frequency of the NOS3 G894T SNP was found in FTLD patients (40.0%) compared to controls (31.4%).
- The odds ratio for FTLD associated with NOS3 G894T was 1.65 (95% CI: 1.13-2.42, P = 0.011).
- No significant differences in the T-786C SNP distribution or gender-specific effects were observed.
Conclusions:
- The NOS3 G894T polymorphism is a potential risk factor for sporadic FTLD.
- Larger population studies are recommended to validate these preliminary findings.
- Further research may elucidate the specific mechanisms linking NOS3 variants to FTLD pathogenesis.
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