The NOS3 G894T (Glu298Asp) polymorphism is a risk factor for frontotemporal lobar degeneration
| Autor: | Ilaria Restelli, Stefano F. Cappa, M. T. Giordana, Claudio Mariani, Chiara Villa, Nereo Bresolin, Innocenzo Rainero, Daniela Galimberti, Diego Scalabrini, A. Mandelli, Francesca Clerici, Eliana Venturelli, Salvatore Gallone, Chiara Fenoglio, Roberta Ghidoni, Francesca Cortini, Elio Scarpini, Alessandra Marcone, G. Binetti |
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| Přispěvatelé: | Venturelli, E, Villa, C, Fenoglio, C, Clerici, F, Marcone, A, Ghidoni, R, Cortini, F, Scalabrini, D, Gallone, S, Rainero, I, Mandelli, A, Restelli, I, Binetti, G, Cappa, S, Mariani, C, Giordana, M, Bresolin, N, Scarpini, E, Galimberti, D |
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Male
medicine.medical_specialty Pathology Nitric Oxide Synthase Type III NOS1 Population DNA Mutational Analysis Single-nucleotide polymorphism Disease Gastroenterology Polymorphism Single Nucleotide Pregnancy Risk Factors Internal medicine Medicine SNP Humans In patient Genetic Predisposition to Disease Genetic Testing education Allelic variant Endothelial nitric oxide synthase Polymorphism Risk factor Sporadic frontotemporal lobar degeneration Aged education.field_of_study business.industry Frontotemporal lobar degeneration Middle Aged medicine.disease Neurology frontotemporal lobar degeneration Case-Control Studies Female Endothelial nitric oxide synthase Neurology (clinical) business Neuronal Nitric Oxide Synthase |
| Popis: | Background and aims: Neuronal nitric oxide synthase (NOS)1 C276T polymorphism was shown to increase the risk for frontotemporal lobar degeneration (FTLD). In the brain, both NOS1 and NOS3 (endothelial isoform) have been detected. The distribution of NOS3 G894T (Glu298Asp) and T-786C single nucleotide polymorphisms (SNPs) was analyzed in a population of 222 patients with FTLD compared with 218 age-matched controls to determine whether they could influence the susceptibility to develop the disease. Results: A statistically significant increased frequency of the NOS3 G894T SNP was observed in patients as compared with controls (40.0 vs. 31.4%, P = 0.011, OR: 1.65, CI: 1.13–2.42). Conversely, the distribution of the T-786C SNP was similar in patients and controls. No differences were observed stratifying according to gender. Discussion: The NOS3 G894T polymorphism likely acts as risk factor for sporadic FTLD, but studies in larger populations are needed to confirm these preliminary findings. |
| Databáze: | OpenAIRE |
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