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帕金森病易感性与α1-抗糜蛋白酶基因多态性之间的遗传关联。

Genetic association between susceptibility to Parkinson's disease and alpha1-antichymotrypsin polymorphism.

作者信息

Yamamoto M, Kondo I, Ogawa N, Asanuma M, Yamashita Y, Mizuno Y

机构信息

Department of Neurology, Kagawa Prefectural Central Hospital, Takamatsu, Japan.

出版信息

Brain Res. 1997 Jun 6;759(1):153-5. doi: 10.1016/s0006-8993(97)00330-2.

DOI:10.1016/s0006-8993(97)00330-2
PMID:9219874
Abstract

The apolipoprotein E (ApoE*) gene is a major risk factor of developing Alzheimer's disease (AD) and the alpha1-antichymotrypsin (ACT) polymorphism is likely to modify susceptibility of the ApoE* gene for AD. Because pathogenesis of AD is partly similar to that in idiopathic Parkinson's disease (PD), we investigated the distribution of genotypes of the ApoE and the ACT in patients with PD. The number of individuals with two copies of the ACT-A allele (ACT-AA genotype) in patients with PD increased significantly compared to that in healthy controls (19.9% versus 8.3%, P < 0.02), and the ACT-A allele frequency in patients with PD was significantly higher than that in healthy controls (chi2 = 5.96, df = 1, P < 0.015). The odds ratio for developing PD in individuals with the ACT-AA genotype was 3.36 compared to individuals with two copies of another allele, the ACT-T allele (ACT-TT genotype). There was no association between ApoE genotypes and susceptibility to PD. These data suggest that the etiological basis of PD might be partly similar to that of AD and the ACT gene might be one of the susceptibility factors for PD.

摘要

载脂蛋白E(ApoE*)基因是患阿尔茨海默病(AD)的主要风险因素,而α1-抗糜蛋白酶(ACT)基因多态性可能会改变ApoE*基因对AD的易感性。由于AD的发病机制部分类似于特发性帕金森病(PD),我们研究了PD患者中ApoE和ACT的基因型分布。与健康对照相比,PD患者中携带两个ACT-A等位基因拷贝(ACT-AA基因型)的个体数量显著增加(19.9%对8.3%,P<0.02),且PD患者中ACT-A等位基因频率显著高于健康对照(χ2 = 5.96,自由度=1,P<0.015)。与携带两个另一个等位基因即ACT-T等位基因拷贝(ACT-TT基因型)的个体相比,携带ACT-AA基因型的个体患PD的优势比为3.36。ApoE基因型与PD易感性之间无关联。这些数据表明,PD的病因基础可能部分类似于AD,且ACT基因可能是PD的易感性因素之一。

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