Association study between iron-related genes polymorphisms and Parkinson's disease
Association study between iron-related genes polymorphisms and Parkinson's disease
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DOI：
10.1007/s00415-002-0704-6
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发表时间：
2002-07-01
影响因子：
6
通讯作者：
Grandchamp, B
中科院分区：
文献类型：
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作者：
Borie, C;Gasparini, F;Grandchamp, B
我们进行了一项病例对照研究，以测试之间的关联8基因内多态性5铁相关基因（转铁蛋白，转铁蛋白受体I，HFE，共济失调蛋白和乳铁蛋白）和帕金森病。除了G258S转铁蛋白多态性外，病例组和对照组的基因型和等位基因频率比较无显著差异，其中G等位基因的频率在病例组中较高（p=0.033），特别是在60岁以上发病（p=0.0017）和阴性家族史（p=0.022）的病例中。这一发现表明，在控制铁代谢的遗传变异可能有助于疾病的发病机制。
We have conducted a case-control study in order to test for an association between 8 intragenic polymorphisms of 5 iron-related genes (transferrin, transferrin receptor I, HFE, frataxin and lactoferrin) and Parkinson disease. Comparison of genotypes and allele frequencies did not differ significantly between cases and controls for all studied polymorphisms except the G258S transferrin polymorphism, for which a higher frequency of the G allele was found among cases (p=0.033), particularly among, cases with onset older than 60 (p=0.0017) and with negative family history (p=0.022). This finding suggests that genetic variations in the control of iron metabolism may contribute to the pathogenesis of the disease.