Morris H R, Schrag A, Nath U, Burn D, Quinn N P, Daniel S, Wood N W, Lees A J
Neurogenetics Section, University Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Neurosci Lett. 2001 Oct 19;312(2):118-20. doi: 10.1016/s0304-3940(01)02190-5.
In addition to allelic association between genetic polymorphisms and diseases, modulation of age of onset is a well recognised effect of disease susceptibility genes. The ApoE epsilon4 allele is associated with an earlier age of onset of sporadic and familial Alzheimer's disease. It has been suggested that the tau genotype influences the age of onset of progressive supranuclear palsy (PSP), a form of atypical parkinsonism caused by tau neurofibrillary tangle deposition. We have therefore analysed the relationship between tau and ApoE genotypes and the age of onset of PSP and another form of atypical parkinsonism, multiple system atrophy (MSA). We have not found any effect of possession of the tau H1 haplotype or the ApoE epsilon4 allele on the age of onset of MSA or PSP.
除了基因多态性与疾病之间的等位基因关联外，疾病易感基因对发病年龄的调节是一种公认的效应。载脂蛋白Eε4等位基因与散发性和家族性阿尔茨海默病的发病年龄较早有关。有人提出，tau基因型会影响进行性核上性麻痹（PSP）的发病年龄，PSP是一种由tau神经原纤维缠结沉积引起的非典型帕金森病形式。因此，我们分析了tau和ApoE基因型与PSP以及另一种非典型帕金森病形式——多系统萎缩（MSA）的发病年龄之间的关系。我们没有发现拥有tau H1单倍型或ApoEε4等位基因对MSA或PSP的发病年龄有任何影响。
