Bosco Paolo, Guéant-Rodríguez Rosa-Maria, Anello Guido, Spada Rosario S, Romano Antonino, Caraci Filippo, Ferri Raffaele, Guéant Jean-Louis
IRCCS Associazione Oasi Maria S.S. - Institute for Research on Mental Retardation and Brain Aging, 94018 Troina (EN), Enna, Italy.
Neurosci Lett. 2005 Nov 18;388(3):168-72. doi: 10.1016/j.neulet.2005.06.056.
The genotype of apolipoprotein E was examined in 173 sporadic Alzheimer's disease (AD) patients, 132 with late onset (LOAD) and 41 with early onset (EOAD), and in 174 healthy matched controls from Sicily. Despite a low frequency of the epsilon 4 allele (6.3%, 95% CI: 4.2--9.4) in controls, epsilon 4 allele was a stronger predictor of AD risk (odds ratio: 5.8, 95% CI: 3.5--9.4; p<0.0001) than in most of the studies performed in other regions of Italy, and it has no influence on age at onset. epsilon 4/epsilon 4 and epsilon 4/epsilon 3 genotypes were similar predictors of AD risk. Conversely, a decreased risk was found in epsilon 3 allele carriers (odds ratio: 0.3, 95% CI: 0.2--0.4; p<0.0001), which remained significant when considering EOAD cases only (odds ratio: 0.2, 95% CI: 0.1--0.4, p<0.0001). In conclusion, differences in association strength of epsilon 4 allele with AD between Sicily and other regions of Italy suggest an influence of complex gene-gene and gene-environment interactions.
对173例散发性阿尔茨海默病（AD）患者的载脂蛋白E基因型进行了检测，其中132例为晚发型（LOAD），41例为早发型（EOAD），并与来自西西里岛的174名健康对照者进行匹配。尽管对照者中ε4等位基因的频率较低（6.3%，95%可信区间：4.2--9.4），但ε4等位基因是AD风险的更强预测因子（优势比：5.8，95%可信区间：3.5--9.4；p<0.0001），比在意大利其他地区进行的大多数研究更强，且它对发病年龄没有影响。ε4/ε4和ε4/ε3基因型是AD风险的相似预测因子。相反，在ε3等位基因携带者中发现风险降低（优势比：0.3，95%可信区间：0.2--0.4；p<0.0001），仅考虑EOAD病例时该结果仍具有显著性（优势比：0.2，95%可信区间：0.1--0.4，p<0.0001）。总之，西西里岛与意大利其他地区之间ε4等位基因与AD关联强度的差异表明复杂的基因-基因和基因-环境相互作用的影响。
