NOS3基因与阿尔茨海默病患病风险关联的研究

目的：阿尔茨海默病（ AD）是最常见的神经退行性疾病，与基因的多态性有关，包括内皮一氧化氮合酶3（ NOS3）发生变化。 NOS分解一氧化氮，并且在血脑屏障中起到有关键作用。探索NOS3基因（ rs1799983，G）与中国南方人群阿尔茨海默病患病风险的关联。方法采用病例-对照研究，在74例散发性患者和139例对照者中，对NOS3基因（rs1799983， G）进行两组间的等位基因及遗传模型基因型差异分析，NOS3基因使用聚合酶连反应-限制性内切酶（ PCR-RFLP）方法分型并测序进行验证。结果①NOS3基因（rs1799983，G）风险等位基因和基因型的频率在病例组和对照间组间的分布无显著性差异（P＞0.05）。②NOS3基因（rs1799983，G）在AD患者中携带ApoE4与非携带ApoEε4两组间基因型频率无显著性差异。结论研究显示NOS3基因rs1799983，G可能与中国南方人群AD患病风险无关联。

Association between NOS3 Gene rs1799983 Polymorphism and Alzheimer Disease in southern Chinese population research

Objective Alzheimer＆#39;s disease （ AD ） is the most common neurodegenerative disease , related to genetic polymor-phisms;including endothelial nitric oxide synthase 3（NOS3）varies.NOS break down nitric oxide and have a key role in blood brain barrier regulation.To explore NOS3 gene （ rs1799983, G ） associated with Alzheimer＆#39;s diseaserisk in southern Chinese popula-tion.Methods 74 AD cases and 139 age-matched non-demented controls from the Southern Chinese population were used in this study,and their blood samples were collected for genotyping.SNPs（rs1799983 G）in NOS3 and APOE（ε2,3,4）alleleswere deter-mined by restriction analysis and sequencing.Results The rs1799983 G polymorphism in NOS3 gene wasnot identified to be associ-ated with AD in the southern Chinese population .①NOS3 gene（ rs1799983,G） risk allele and genotype frequencies between cases and controls was no significant difference （P＆gt;0.05）.②NOS3 gene（rs1799983,G）in patients with AD between theApoEε4 car-riesand ApoEε4 no carriesgenotype frequency have no significant difference.Conclusion The study shows that NOS 3 gen-ers1799983,G was noassociated withAD risk in the southern China population.