Kunugi H, Akahane A, Ueki A, Otsuka M, Isse K, Hirasawa H, Kato N, Nabika T, Kobayashi S, Nanko S
Department of Psychiatry, Teikyo University School of Medicine, Tokyo, Japan.
J Neural Transm (Vienna). 2000;107(8-9):1081-4. doi: 10.1007/s007020070053.
Recently a significant association of a missense mutation (Glu298Asp) of the endothelial nitric oxide synthase (NOS3) gene with late-onset Alzheimer's disease (LOAD) was reported. We tried to replicate this finding in a Japanese sample of 121 patients with LOAD, 51 with early-onset AD (EOAD), and 165 medical controls. However, the genotype and allelic distributions for the Glu298Asp polymorphism were similar for these three groups, suggesting that the Glu298Asp polymorphism of the NOS3 gene has no relevance to the development of AD in Japanese.
最近有报道称，内皮型一氧化氮合酶（NOS3）基因的错义突变（Glu298Asp）与晚发型阿尔茨海默病（LOAD）存在显著关联。我们试图在一个包含121例LOAD患者、51例早发型阿尔茨海默病（EOAD）患者和165名医学对照的日本样本中重复这一发现。然而，这三组人群中Glu298Asp多态性的基因型和等位基因分布相似，这表明NOS3基因的Glu298Asp多态性与日本人患阿尔茨海默病无关。
