Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy.
Neurosci Lett. 2010 Jun 25;477(3):121-3. doi: 10.1016/j.neulet.2010.04.046. Epub 2010 Apr 27.
Alzheimer's disease (AD) is a complex and multifactorial progressive neurodegenerative disease. Recently, two studies reported inconsistent results on a possible involvement of the NEDD9 (neural precursor cell expressed, developmentally down-regulated 9, 6p25-p24) as a candidate gene for the risk of developing AD and/or Parkinson's disease (PD). We analyzed the distribution of the rs760678 SNP polymorphism in 735 Italian subjects: 214 unrelated sporadic late-onset AD patients (LOAD, 64.5% females, mean age-at-onset 71.8+/-5.2 years), 135 early-onset AD patients (EOAD, 57.3% females, mean age-at-onset 57.5+/-5.5 years) and 386 healthy controls (68.9% females, mean age 83.4+/-17.9 years; SD). We observed a statistically significant difference between LOAD patients and controls according to genotypes (P=0.016) and allele frequency (P=0.007); CC genotype was more frequent in LOAD cases (44.4%) than controls (36.0%). No difference after stratification of the data in terms of gender and status of the APOE epsilon4 allele was observed. In conclusion, our data do support an implication of the NEDD9 allelic variant in late-onset AD, with an independent effect of the apolipoprotein E (APOE) epsilon4 allele in the risk of developing AD.
阿尔茨海默病(AD)是一种复杂的、多因素的进行性神经退行性疾病。最近,有两项研究报告了 NEDD9(神经前体细胞表达的、发育下调 9,6p25-p24)作为 AD 和/或帕金森病(PD)发病风险候选基因的可能性存在不一致的结果。我们分析了 rs760678 SNP 多态性在 735 名意大利受试者中的分布:214 名无关联的散发性晚发性 AD 患者(LOAD,64.5%为女性,发病年龄平均为 71.8+/-5.2 岁),135 名早发性 AD 患者(EOAD,57.3%为女性,发病年龄平均为 57.5+/-5.5 岁)和 386 名健康对照者(68.9%为女性,平均年龄为 83.4+/-17.9 岁;标准差)。根据基因型(P=0.016)和等位基因频率(P=0.007),LOAD 患者与对照组之间存在统计学显著差异;CC 基因型在 LOAD 病例(44.4%)中比对照组(36.0%)更常见。未观察到根据性别和 APOE epsilon4 等位基因状态分层数据后的差异。总之,我们的数据支持 NEDD9 等位基因变异与晚发性 AD 有关,载脂蛋白 E(APOE)epsilon4 等位基因在 AD 发病风险中有独立作用。