Distortion of allelic expression of apolipoprotein E in Alzheimer's disease
Distortion of allelic expression of apolipoprotein E in Alzheimer's disease
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DOI：
10.1093/hmg/6.12.2151
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发表时间：
1997-11-01
影响因子：
3.5
通讯作者：
ChartierHarlin, MC
中科院分区：
文献类型：
--
作者：
Lambert, JC;PerezTur, J;ChartierHarlin, MC
APOE ε 4等位基因是阿尔茨海默病的一个很强的遗传易感性因素。与其他生物因素的相互作用可能调节apoE亚型的作用。然而，先前的研究表明，APOE位点内可能存在影响epsilon 4等位基因作用的其他遗传变异。这种变异可以改变APOE基因的表达，特别是APOE等位基因的表达水平可能是疾病发病机制的重要决定因素。为了验证这一假设，我们使用一种新的半定量方法检测了AD杂合子和对照中APOE的表达水平。我们报道，与对照组相比，AD患者epsilon 4 mRNA的相对表达增加，并提示APOE神经表达的遗传变异性与疾病风险有关。
The APOE epsilon 4 allele is a strong genetic susceptibility factor for Alzheimer's disease. Interaction with other biological factors may modulate the effect of the apoE isoforms. However, previous work suggested that other genetic variability within the APOE locus, influencing the effect of the epsilon 4 allele, may exist. Such variability could modify the expression of the APOE gene and, in particular, the level of expression of APOE alleles could be an important determinant of disease pathogenesis. To test this hypothesis we examined the levels of expression of APOE in heterozygotes with AD and in controls, using a new method of semi-quantitation. We report that relative epsilon 4 mRNA expression is increased in AD compared with controls and suggest that genetic variability in the neural expression of APOE contributes to disease risk.