Mellick G D, Silburn P A, Prince J A, Brookes A J
University of Queensland, School of Medicine, Princess Alexandra Hospital, Brisbane, Australia.
J Neural Transm (Vienna). 2004 Feb;111(2):191-9. doi: 10.1007/s00702-003-0085-8. Epub 2003 Dec 12.
Genetic factors play an important role in the aetiology of Parkinson's disease (PD). We have screened nuclear genes encoding subunits of mitochondrial complex I for associations between single nucleotide polymorphisms (SNPs) and PD. Abnormal functioning of complex I is well documented in human PD. Moreover, toxicological inhibition of complex I can lead to parkinsonism in animals. Thus, commonly occurring variants in these genes could potentially influence complex I function and the risk of developing PD. A sub-set of 70 potential SNPs in 31 nuclear complex I genes were selected and association analysis was performed on 306 PD patients plus 321 unaffected control subjects. Genotyping was performed using the DASH method. There was no evidence that the examined SNPs were significant genetic risk factors for PD, although this initial screen could not exclude the possibility that other disease-influencing variations exist within these genes.
遗传因素在帕金森病（PD）的病因中起着重要作用。我们筛查了编码线粒体复合体I亚基的核基因，以寻找单核苷酸多态性（SNP）与PD之间的关联。复合体I功能异常在人类PD中已有充分记录。此外，对复合体I的毒理学抑制可导致动物出现帕金森综合征。因此，这些基因中常见的变异可能会影响复合体I的功能以及患PD的风险。从31个核复合体I基因中选择了70个潜在SNP的子集，并对306例PD患者和321例未受影响的对照受试者进行了关联分析。使用DASH方法进行基因分型。没有证据表明所检测的SNP是PD的显著遗传风险因素，尽管这一初步筛查不能排除这些基因中存在其他影响疾病的变异的可能性。
