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首页> 外文期刊>Genomics >Parkinson's disease and apolipoprotein E: possible association with dementia but not age at onset.
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Parkinson's disease and apolipoprotein E: possible association with dementia but not age at onset.

机译：帕金森氏病和载脂蛋白E：可能与痴呆有关，但发病年龄不大。

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摘要

Idiopathic Parkinson's disease (PD) is an age-dependent, neurodegenerative condition frequently associated with dementia. Although it is predominantly a sporadic disease, 20-30% of cases are familial, suggesting a complex mode of inheritance. Apolipoprotein E (APOE) allele epsilon4 has been associated with familial and sporadic late-onset senile dementia of the Alzheimer's type. To investigate the role of this gene in the development of dementia associated with PD and age at onset of PD, we evaluated the frequency of APOE gene polymorphism in a sample of PD patients with (n=118) and without (n=167) a family history, as well as matched normal controls (n=96). The PD sample was categorized according to age at onset and presence or absence of dementia. Kaplan-Meier survival analysis was used to plot genotype-specific age at onset distribution curves. Allele frequencies of APOE in PD patients with and without a family history and normal controls were not significantly different. APOE genotypes were also similar between the groups. However, the frequencies of epsilon4 allele and epsilon4/- genotype in the PD group with dementia were more than twofold higher than in normal controls, and the differences were statistically significant. There were no differences in the allele and genotype frequencies of the APOE gene between PD groups with different age at onset. The familial PD had significantly earlier age at onset than sporadic PD (Log-rank test, P=0.027). The age at onset distribution curves for different genotype groups were similar, and their differences were not statistically significant (P=0.38). After the Bonferroni's correction for multiple tests, the positive results are not significant at the P<0.05 level. We conclude that APOE does not play an important role in susceptibility to PD or age at onset of PD, but may play a role in dementia associated with PD in our sample.
机译：特发性帕金森氏病（PD）是一种年龄依赖性神经退行性疾病，经常与痴呆症相关。尽管主要是散发性疾病，但20-30％的病例是家族性的，表明遗传方式复杂。载脂蛋白E（APOE）等位基因epsilon4与家族性和偶发性早发性老年痴呆症有关。为了研究该基因在与PD相关的痴呆症的发展以及PD发病年龄中的作用，我们评估了在（n = 118）和没有（n = 167）a的PD患者样本中APOE基因多态性的频率。家族史以及相匹配的正常对照（n = 96）。根据发病年龄以及是否存在痴呆症对PD样本进行分类。 Kaplan-Meier生存分析用于绘制发病分布曲线上特定基因型的年龄。有和没有家族史的PD患者和正常对照者的APOE等位基因频率无显着差异。两组之间的APOE基因型也相似。然而，患有痴呆的PD组中epsilon4等位基因和epsilon4 /-基因型的频率比正常对照组高两倍以上，差异具有统计学意义。发病年龄不同的PD组之间APOE基因的等位基因和基因型频率没有差异。家族性PD的发病年龄比散发的PD明显早（对数秩检验，P = 0.027）。不同基因型组的发病年龄分布曲线相似，差异无统计学意义（P = 0.38）。在对Bonferroni进行多次测试校正后，阳性结果在P <0.05的水平上不显着。我们得出的结论是，在我们的样本中，APOE在对PD的易感性或PD发病年龄中不发挥重要作用，但可能在与PD相关的痴呆症中起作用。

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