Sorbi S, Nacmias B, Forleo P, Piacentini S, Amaducci L
Department of Neurological Sciences, University of Florence, Italy.
Ann N Y Acad Sci. 1996 Jan 17;777:260-5. doi: 10.1111/j.1749-6632.1996.tb34429.x.
Recent studies have provided evidence of association of apolipoprotein E (ApoE) epsilon 4 allele and late onset familial and sporadic Alzheimer's disease (AD). Epidemiological studies have established allelic variation at the ApoE locus. We have analyzed the ApoE gene polymorphism in a sample of 416 Italian subjects. Our data confirm a significant association between epsilon 4 allele and sporadic AD. The frequency of epsilon 4 allele in early onset familial AD patients was comparable to control values suggesting that epsilon 4 allele does not represent a risk factor for early onset familial AD (EOFAD). Moreover, we found a not-previously reported association between ApoE epsilon 2 allele and sporadic AD and EOFAD. We included in this study two EOFAD families with the APP717 Val-->Ile mutation in the Amyloid Precursor Protein (APP) gene on chromosome 21. In any of the EOFAD families there was a significant effect of the ApoE genotype on the age of onset with the exception of one of the two mutated EOFAD families in which the 2 allele delays the age of onset.
近期研究已提供证据表明，载脂蛋白E（ApoE）ε4等位基因与晚发型家族性和散发性阿尔茨海默病（AD）相关。流行病学研究已确定ApoE基因座存在等位基因变异。我们分析了416名意大利受试者样本中的ApoE基因多态性。我们的数据证实ε4等位基因与散发性AD之间存在显著关联。早发型家族性AD患者中ε4等位基因的频率与对照值相当，这表明ε4等位基因并非早发型家族性AD（EOFAD）的风险因素。此外，我们发现ApoE ε2等位基因与散发性AD和EOFAD之间存在此前未报道的关联。我们将两个携带21号染色体上淀粉样前体蛋白（APP）基因中APP717 Val→Ile突变的EOFAD家族纳入本研究。在任何一个EOFAD家族中，除了两个突变的EOFAD家族之一（其中2等位基因会延迟发病年龄）外，ApoE基因型对发病年龄均无显著影响。
