Mutations in the hemochromatosis gene (HFE), Parkinson's disease and parkinsonism
Mutations in the hemochromatosis gene (HFE), Parkinson's disease and parkinsonism
复制标题
DOI：
10.1016/s0304-3940(03)00713-4
复制
发表时间：
2003-09-11
影响因子：
2.5
通讯作者：
van Duijn, CM
中科院分区：
文献类型：
--
作者：
Dekker, MCJ;Giesbergen, PC;van Duijn, CM
铁超载增加氧化应激，并可能导致神经退行性疾病，如帕金森病（PD）。我们在两个以人群为基础的系列研究中研究了血色素沉着症基因HFE突变在PD和其他帕金森综合征（非PD PS）中的作用。第一个系列包括137例PD和47例非PD PS患者，第二个系列包括60例PD和25例非PD PS患者。在第一个系列中，PD患者的C282Y突变的纯合性明显高于对照组（P = 0.03）。两个系列中的非PD PS患者比对照组更常携带C282Y突变（分别为P = 0.009，P = 0.006）。我们的数据受到小数量的阻碍，但表明C282Y突变增加了PD和非PD PS的风险。这种基因型的罕见性需要大量的患者来证明我们的假设。(C)2003爱思唯尔科学爱尔兰有限公司保留所有权利。
Iron overload increases oxidative stress and may lead to neurodegenerative disease like Parkinson's disease (PD). We studied the role of mutations in the hemochromatosis gene HFE in PD and other parkinsonism (non-PD PS) in two population-based series. The first series consisted of 137 patients with PD and 47 with non-PD PS, and the second of 60 patients with PD and 25 with non-PD PS. In the first series, PD patients were significantly more often homozygous for the C282Y mutation than controls (P = 0.03). Patients with non-PD PS in both series were more often carriers for the C282Y mutation than controls (P = 0.009, P = 0.006, respectively). Our data are hampered by small numbers, yet suggest that the C282Y mutation increases the risk of PD and non-PD PS. The rarity of this genotype requires a large series of patients to prove our hypothesis. (C) 2003 Elsevier Science Ireland Ltd. All rights reserved.