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新型帕金森病基因座在欧洲人群中的复制。

Replication of a Novel Parkinson's Locus in a European Ancestry Population.

机构信息

Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany.

Bioinformatics Core, Luxembourg Centre for Systems Biomedicine (LCSB), Belvaux, Luxembourg.

出版信息

Mov Disord. 2021 Jul;36(7):1689-1695. doi: 10.1002/mds.28546. Epub 2021 Mar 24.

Abstract

BACKGROUND

A recently published East Asian genome-wide association study of Parkinson;s disease (PD) reported 2 novel risk loci, SV2C and WBSCR17.

OBJECTIVES

The objective of this study were to determine whether recently reported novel SV2C and WBSCR17 loci contribute to the risk of developing PD in European and East Asian ancestry populations.

METHODS

We report an association analysis of recently reported variants with PD in the COURAGE-PD cohort (9673 PD patients; 8465 controls) comprising individuals of European and East Asian ancestries. In addition, publicly available summary data (41,386 PD patients; 476,428 controls) were pooled.

RESULTS

Our findings confirmed the role of the SV2C variant in PD pathogenesis (rs246814, COURAGE-PD P  = 6.64 × 10 , pooled PD P = 1.15 × 10 ). The WBSCR17 rs9638616 was observed as a significant risk marker in the East Asian pooled population only (P = 1.16 × 10 ).

CONCLUSIONS

Our comprehensive study provides an up-to-date summary of recently detected novel loci in different PD populations and confirmed the role of SV2C locus as a novel risk factor for PD irrespective of the population or ethnic group analyzed. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

摘要

背景

最近发表的一项东亚帕金森病(PD)全基因组关联研究报告了 2 个新的风险位点 SV2C 和 WBSCR17。

目的

本研究旨在确定最近报道的新 SV2C 和 WBSCR17 位点是否与欧洲和东亚血统人群 PD 的发病风险有关。

方法

我们报告了一项对 COURAGE-PD 队列(9673 例 PD 患者;8465 例对照)中最近报道的变异与 PD 的关联分析,该队列包括欧洲和东亚血统的个体。此外,还合并了公开的汇总数据(41386 例 PD 患者;476428 例对照)。

结果

我们的研究结果证实了 SV2C 变异在 PD 发病机制中的作用(rs246814,COURAGE-PD P = 6.64×10 ,合并 PD P = 1.15×10 )。仅在东亚人群的汇总分析中观察到 WBSCR17 rs9638616 是一个显著的风险标记物(P = 1.16×10 )。

结论

我们的综合研究提供了最新的关于不同 PD 人群中最近发现的新位点的总结,并证实了 SV2C 位点作为 PD 的一个新的风险因素,无论分析的人群或种族群体如何。© 2021 作者。运动障碍协会代表国际帕金森病和运动障碍协会由 Wiley 期刊出版。

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