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Lack of association between three single nucleotide polymorphisms in the PARK9, PARK15, and BST1 genes and Parkinson's disease in the northern Han Chinese population

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文摘 Background Parkinson's disease (PD) is an autosomally inherited neurodegenerative disease in elderly people. The etiology of PD has long been thought to be associated with both genetic and environmental factors. To explore potential genetic risk factors for PD in the northern Han Chinese population, we investigated three single nucleotide polymorphisms (SNPs) (rs4538475, rs11107 and rs12564040) in the BST1, PARK15 and PARK9 genes. Methods Genomic DNA from 215 PD patients and 212 matched controls was amplified in two independent PCR systems and subsequently genotyped by digestion with the endonuclease PstI. Genetic parameter and association studies were carried out with SPSS 13.0 and PLINK 1.07 software. Results We could accurately detect all genotypes in the three loci with the PCR-RFLP or mismatched PCR-RFLP techniques. The observed heterozygosities of the rs4538475 and rs11107 loci in PD and control groups ranged from 0.460–0.481 and 0.410–0.441, in BST1, PARK15 respectively, while we detected no heterozygosity at the rs12564040 locus in PARK9. The similar distributions of genotypic frequency between both groups suggest that the three SNPs investigated in this study are unlikely to play roles as common risk factors or pathogenic mutations for PD in northern Han Chinese. Conclusion The SNPs investigated in the BST1, PARK15 and PARK9 genes associated with PD susceptibility are not associated with PD in the northern Han Chinese population.
来源 Chinese Medical Journal ,2012,125(4):588-592 【核心库】
DOI 10.3760/cma.j.issn.0366-6999.2012.04.006
关键词 Parkinson disease ; PARK9 ; PARK15 ; BST1 ; genetic association studies
地址

1. School of Forensic Medicine, China Medical University, Liaoning, Shenyang, 110001  

2. Department of Neurology, the First Hospital of China Medical University, Liaoning, Shenyang, 110001  

3. Department of Neurosurgery, Dalian University Affiliated Xinhua Hospital, Liaoning, Dalian, 116021

语种 英文
文献类型 研究性论文
ISSN 0366-6999
学科 中国医学
基金 supported by a grant from the National Natural Science Foundation of China
文献收藏号 CSCD:4440285

参考文献 共 22 共2页

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引证文献 1 篇

1 Cui Honggang Association of Five SNPs at the PARK16 Locus as a Susceptibility Locus with Parkinson's Disease for Forensic Application 法医学杂志,2013,29(3):185-189
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