No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease.
No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease.
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丁酰胆碱酯酶基因的 K 变体与病理学证实的阿尔茨海默病之间没有关联。
DOI：
10.1093/hmg/7.5.937
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发表时间：
1998
影响因子：
3.5
通讯作者：
Christopher Morris
中科院分区：
文献类型：
--
作者：
A. Singleton;Graeme B. J. Smith;A. Gibson;Rebecca Woodward;R. Perry;P. Ince;J. Edwardson;Christopher Morris
与对照人群相比，携带载脂蛋白（APO E）基因epsilon4等位基因的阿尔茨海默病（AD）患者中，丁基胆碱酯酶（bch -K）基因多态性K变体的频率较高。因此，我们对大量病理证实的AD患者和对照组进行了基因分型，以证实这种关联。我们发现，与年龄匹配的对照组相比，无论是在整个AD组中，还是在早发或晚发患者中，这种基因变异的频率都没有变化。根据APO E epsilon4等位基因对这些组进行分层，AD组与对照组之间也没有差异。为了确定是否存在生物学效应，我们还观察了携带或不携带K变体副本的AD患者额叶、颞叶、顶叶和枕叶皮层的老年斑和神经原纤维缠结密度。我们发现两组之间的斑块或缠结负荷在完全、晚发性或早发性AD受试者中没有差异。根据APO E epsilon4等位基因拥有情况对AD总组进行分层，并进一步比较BCHE-K携带者和非携带者之间的斑块和缠结负荷，仍然未能揭示BCHE-K与AD之间的关系。我们的结论是，在这里研究的人群中，BCHE-K和AD之间没有关联，或者如果存在这种关系，则被另一个未知因素排除。
The polymorphic K variant of the butyrylcholinesterase ( BCHE-K ) gene recently has been demonstrated to have an elevated frequency in Alzheimer's disease (AD) patients carrying the epsilon4 allele of the apolipoprotein (APO E) gene when compared with a control population. We therefore genotyped a large series of pathologically confirmed AD patients and controls to confirm this association. We found no change in the frequency of this genetic variant, either in the AD group as a whole or in early- or late-onset patients when compared with age-matched controls. Stratification of these groups with reference to the APO E epsilon4 allele also showed no difference between AD and control groups. To determine if a biological effect were present, we also looked at senile plaque and neurofibrillary tangle densities in the frontal, temporal, parietal and occipital cortices in AD patients either carrying or not carrying a copy of the K variant. We found no difference in plaque or tangle load between these two groups in either the total, late-onset or early-onset AD subjects. Stratification of the total AD group in terms of APO E epsilon4 allele possession, and further comparison of plaque and tangle load between carriers and non-carriers of BCHE-K still failed to disclose a relationship between BCHE-K and AD. We conclude that in the population studied here there is no association between BCHE-K and AD, or that if such a relationship exists it is precluded by another, as yet unknown factor.