A novel screen for nuclear mitochondrial gene associations with Parkinson's disease

被引:11
作者
Mellick, GD [3 ]
Silburn, PA
Prince, JA
Brookes, AJ
机构
[1] Princess Alexandra Hosp, Dept Neurol, Brisbane, Qld 4102, Australia
[2] Karolinska Inst, Dept Genom & Bioinformat, Stockholm, Sweden
[3] Univ Queensland, Sch Med, Princess Alexandra Hosp, Woolloongabba, Qld 4102, Australia
关键词
Parkinson's disease; association studies; mitochondrial complex I; SNP; dynamic allele-specific hybridisation; HGVbase;
D O I
10.1007/s00702-003-0085-8
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:191 / 199
页数:9
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