Suppr超能文献

USP24 和 USP40 的单核苷酸多态性与汉族人群帕金森病的关联分析。

Association analysis of single-nucleotide polymorphisms of USP24 and USP40 with Parkinson's disease in the Han Chinese population.

机构信息

Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.

出版信息

Eur Neurol. 2012;68(3):181-4. doi: 10.1159/000339641. Epub 2012 Aug 24.

Abstract

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.

摘要

背景

泛素-蛋白酶体通路已被发现与帕金森病(PD)的病因有关。USP24 和 USP40 基因中的许多单核苷酸多态性(SNPs)与晚发性 PD 的风险增加有关,但这种关联尚未在中国内地居民,尤其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 例无关汉族 PD 患者和来自同一地区的 274 例无关汉族健康对照者。采用Sequenom iPLEX assay 技术对 USP24 的 rs13312、rs1165226、rs487230 和 rs287235 以及 USP40 的 rs1048603 等多个 SNP 进行了基因分型。

结果

PD 组与对照组、早发性 PD 组与对照组、晚发性 PD 组与对照组、早发性 PD 组与晚发性 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著差异。

结论

本研究首次报道了 USP24 和 USP40 的 SNPs 与汉族 PD 患者之间不存在关联。需要进行更多的具有更大样本量的关联研究来证实本研究的结果。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验