内皮型一氧化氮合酶3基因多态性与晚发性阿尔茨海默病的关联

Association of polymorphism of the endothelial nitric oxide synthase gene with Alzheimer disease

目的 探讨中国人群中内皮一氧化氮合酶 3(NOS3)基因第 7外显子G/T(氨基酸序列为Glu2 98Asp)多态性与晚发性AD的相关性。 方法 应用聚合酶链反应 限制性片段长度多态性(PCR RFLP)方法 ,在 6 8例散发性AD患者 (≥ 6 5岁 )和 15 8例对照人群中观察NOS3基因和载脂蛋白 (apoE)基因多态性分布 ,经OddRatio比值分析和显著性检验。 结果 (1)NOS3基因各等位基因、基因型频率两组间比较差异无显著性 ;(2 )AD与apoE基因ε4等位基因及ε4携带者均呈正相关 ;(3)按有无apoEε4等位基因对晚发性AD患者分型 ,结果表明apoEε4携带者和非apoEε4携带者两组间GG基因型频率差异无显著性 ,但NOS3基因和apoE基因之间可能存在拮抗作用 ;(4 )按年龄分层分析GG基因型频率分布 ,分析结果显示NOS3基因是高龄AD组 (≥ 80岁 )的一个危险因子。 结论 南宁市汉族人群中NOS3基因G/T多态性与高龄组晚发性AD有关。

Objective To study the G/T polymorphism in exon 7 of the NOS3 gene (Glu298Asp) associated with Late-onset AD in Chinese population. Methods 68 sporadic AD cases and 158 controls were genotyped on the polymorphism of NOS3 and apoE genes by PCR- RFLP,and then the impact of the polymorphism was detected throughout odd ratio and probability tests. Results There were no differences in allele and genotype frequencies between two groups. AD was associated with apoE gene ε4 allele and ε4 carrier genotype. Late-onset AD patients were subdivided into two groups according to apoEε4 allele. The result showed that there was no significant difference in the frequency of the GG genotype for either the apoEε4 carrier or non-apoEε4 carrier group. NOS3 gene and apoE gene may have antagonistic action. Also,Late-onset AD patients were divided into three groups based on their age,and the analysis revealed GG genotype of NOS3 gene was a risk factor of the eldest AD group. Conclusions The polymorphism of G/T in NOS3 gene may be associated with eldest Late-onset AD in Chinese.