Monastero Roberto, Cefalù Angelo B, Camarda Cecilia, Buglino Carmela M, Mannino Marina, Barbagallo Carlo M, Lopez Gianluca, Camarda Lawrence K C, Travali Salvatore, Camarda Rosolino, Averna Maurizio R
Department of Neurology and Rehabilitation, Centre for Aging Brain and Dementia, Institute of Neuropsychiatry, University of Palermo, Italy.
Neurosci Lett. 2003 May 8;341(3):229-32. doi: 10.1016/s0304-3940(03)00210-6.
A great amount of evidence suggests that neuroinflammation may be a major pathogenetic mechanism in the pathophysiology of sporadic Alzheimer's Disease (sAD). Recently, polymorphisms in the endothelial nitric oxide synthase (NOS3) gene have been associated to late onset Alzheimer's Disease in a British population. However, other groups failed to replicate this finding in Asiatic and Caucasian populations. We conducted a case-control study including a clinically well-defined group of 149 sAD patients and 149 age and sex matched controls to test the association between NOS3 Glu298Asp polymorphism and sAD in an ethnically homogenous Italian population. All subjects were genotyped at NOS3 and apolipoprotein E. No significant difference was found in either allele or genotype frequencies between cases and controls, even after stratification for Apolipoprotein E4 carrier status. The NOS3 Glu298Asp polymorphism does not appear to influence the risk of developing sAD in an Italian population.
大量证据表明,神经炎症可能是散发性阿尔茨海默病(sAD)病理生理学中的主要致病机制。最近,内皮型一氧化氮合酶(NOS3)基因多态性与英国人群中晚发性阿尔茨海默病相关。然而,其他研究小组未能在亚洲和白种人群中重复这一发现。我们进行了一项病例对照研究,纳入了一组临床明确的149例sAD患者和149例年龄及性别匹配的对照,以检测在种族同质的意大利人群中NOS3 Glu298Asp多态性与sAD之间的关联。所有受试者均进行了NOS3和载脂蛋白E基因分型。即使按载脂蛋白E4携带者状态分层后,病例组和对照组之间的等位基因或基因型频率均未发现显著差异。在意大利人群中,NOS3 Glu298Asp多态性似乎不影响患sAD的风险。