Association Analysis of Single-Nucleotide Polymorphisms of USP24 and USP40 with Parkinson’s Disease in the Han Chinese Population
Association Analysis of Single-Nucleotide Polymorphisms of USP24 and USP40 with Parkinson’s Disease in the Han Chinese Population
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DOI：
10.1159/000339641
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发表时间：
2012-08
影响因子：
2.4
通讯作者：
Bi Zhao;W. Song;Yongping Chen;Rui Huang;Ke Chen;B. Cao;Yuan Yang;H. Shang
中科院分区：
文献类型：
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作者：
Bi Zhao;W. Song;Yongping Chen;Rui Huang;Ke Chen;B. Cao;Yuan Yang;H. Shang
背景：已发现泛素-蛋白酶体途径与帕金森病（PD）的病因有关。 USP24和USP40基因中的众多单核苷酸多态性（SNP）与迟发性PD风险增加有关，但这种关联尚未在中国大陆居民，特别是汉族人群中得到证实。方法：我们纳入了来自中国西南部的 378 名无血缘关系的汉族 PD 患者和来自同一地区的 274 名无血缘关系的汉族健康对照者。使用 Sequenom iPLEX 检测技术对多个 SNP 进行基因分型，包括 USP24 的 rs13312、rs1165226、rs487230 和 rs287235 以及 USP40 的 rs1048603。结果：PD与对照组、早发PD与对照组、晚发PD与对照组、早发PD与晚发PD组之间所有SNP的基因型频率和次要等位基因频率均无显着差异。结论：本研究首次报道了中国汉族患者中 USP24 和 USP40 的 SNP 与 PD 之间缺乏关联。有必要进行其他涉及更多参与者的关联研究来证实目前的发现。
Background: The ubiquitin-proteasomal pathway has been found to be involved in the etiology of Parkinson’s disease (PD). Numerous single-nucleotide polymorphisms (SNPs) in both USP24 and USP40 genes have been linked to increased risks of late-onset PD, but the association has not been confirmed in the residents of mainland China, especially the Han population. Methods: We included 378 unrelated Han Chinese PD patients from south west China and 274 unrelated Han Chinese healthy controls from the same region. Multiple SNPs, including rs13312, rs1165226, rs487230, and rs287235 of USP24 and rs1048603 of USP40, were genotyped using Sequenom iPLEX Assay technology. Results: No significant differences in the genotype frequencies and minor allele frequency of all SNPs were observed between the PD and control groups, between the early-onset PD and control groups, between the late-onset PD and control groups, and between the early-onset PD and late-onset PD groups. Conclusion: The present study is the first to report a lack of association between SNPs of USP24 and USP40 and PD in Han Chinese patients. Other association studies with larger numbers of participants are necessary to confirm the present findings.