Singleton A B, Smith G, Gibson A M, Woodward R, Perry R H, Ince P G, Edwardson J A, Morris C M
MRC Neurochemical Pathology Unit, Institute for the Health of the Elderly, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, NE4 6BE UK.
Hum Mol Genet. 1998 May;7(5):937-9. doi: 10.1093/hmg/7.5.937.
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.
与对照人群相比，近期研究表明，携带载脂蛋白（APO E）基因ε4等位基因的阿尔茨海默病（AD）患者中，丁酰胆碱酯酶（BCHE-K）基因的多态性K变体频率升高。因此，我们对大量经病理证实的AD患者和对照进行基因分型，以确认这种关联。我们发现，与年龄匹配的对照相比，无论是在整个AD组，还是在早发或晚发患者中，这种基因变体的频率均无变化。根据APO Eε4等位基因对这些组进行分层分析，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未携带K变体拷贝的AD患者额叶、颞叶、顶叶和枕叶皮质中的老年斑和神经原纤维缠结密度。我们发现，在总AD患者、晚发或早发AD患者中，这两组之间的斑块或缠结负荷均无差异。根据是否拥有APO Eε4等位基因对总AD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，仍未发现BCHE-K与AD之间存在关联。我们得出结论，在本研究人群中，BCHE-K与AD之间不存在关联，或者说，如果存在这种关系，也会被另一个未知因素所排除。
