Department of Neurological Sciences, 'Dino Ferrari' Center, University of Milan, IRCCS Fondazione Ospedale Maggiore Policlinico, Milan, Italy.
Eur J Neurol. 2009 Jan;16(1):37-42. doi: 10.1111/j.1468-1331.2008.02335.x.
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.
神经元型一氧化氮合酶（NOS）1 C276T 多态性增加了额颞叶变性（FTLD）的风险。在大脑中，NOS1 和 NOS3（内皮型同工酶）均已被检测到。本研究分析了 222 例 FTLD 患者与 218 名年龄匹配的对照者中 NOS3 G894T（Glu298Asp）和 T-786C 单核苷酸多态性（SNP）的分布，以确定它们是否会影响疾病的易感性。
与对照组相比，患者中 NOS3 G894T SNP 的频率明显升高（40.0%比 31.4%，P=0.011，OR：1.65，95%CI：1.13-2.42）。相反，患者和对照组 T-786C SNP 的分布相似。按性别分层时，未观察到差异。
NOS3 G894T 多态性可能是散发性 FTLD 的危险因素，但需要在更大的人群中进行研究以证实这些初步发现。
