The NOS3 G894T (Glu298Asp) polymorphism is a risk factor for frontotemporal lobar degeneration

被引：21

作者：

Venturelli, E. ^{[1
]}

Villa, C. ^{[1
]}

Fenoglio, C. ^{[1
]}

Clerici, F. ^{[2
]}

Marcone, A. ^{[3
]}

Ghidoni, R. ^{[4
]}

Cortini, F. ^{[1
]}

Scalabrini, D. ^{[1
]}

Gallone, S. ^{[5
]}

Rainero, I. ^{[5
]}

Mandelli, A. ^{[1
]}

Restelli, I. ^{[1
]}

Binetti, G. ^{[4
]}

Cappa, S. ^{[6
]}

Mariani, C. ^{[2
]}

Giordana, M. T. ^{[5
]}

Bresolin, N. ^{[1
]}

Scarpini, E. ^{[1
]}

Galimberti, D. ^{[1
]}

机构：

[1] Univ Milan, Dept Neurol Sci, Dino Ferrari Ctr, IRCCS Fdn Osped Maggiore Policlin, Milan, Italy

[2] Univ Milan, L Sacco Hosp, Ctr Res & Treatment Cognit Dysfunct, Chair Neurol, Milan, Italy

[3] San Raffaele Turro Hosp, San Raffaele Sci Inst, Div Neurol, Milan, Italy

[4] IRCCS Ctr S Giovanni Dio Fatebenefratelli, NeuroBioGen Lab Memory Clin, Brescia, Italy

[5] Univ Turin, Dept Neurosci, I-10124 Turin, Italy

[6] Univ Vita Salute San Raffaele, Milan, Italy

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2009年 / 16卷 / 01期

关键词：

allelic variant; endothelial nitric oxide synthase; polymorphism; risk factor; sporadic frontotemporal lobar degeneration; NITRIC-OXIDE SYNTHASE; ALZHEIMERS-DISEASE; GENETIC ASSOCIATION; PROGRANULIN GENE; NO ASSOCIATION; DEMENTIA; EXPRESSION; MUTATIONS; DIAGNOSIS; CRITERIA;

D O I：

10.1111/j.1468-1331.2008.02335.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. 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. The NOS3 G894T polymorphism likely acts as risk factor for sporadic FTLD, but studies in larger populations are needed to confirm these preliminary findings.

引用

页码：37 / 42

页数：6

共 39 条

[1] Genetic association between endothelial nitric oxide synthase and Alzheimer disease [J].