DNAJ mutations are rare in Chinese Parkinson's disease patients and controls

被引：22

作者：

Foo, Jia Nee ^{[1
]}

Liany, Herty ^{[1
]}

Tan, Louis C. ^{[2
]}

Au, Wing-Lok ^{[2
]}

Prakash, Kumar-M. ^{[2
]}

Liu, Jianjun ^{[1
]}

Tan, Eng-King ^{[2
,3
]}

机构：

[1] ASTAR, Genome Inst Singapore, Singapore 138672, Singapore

[2] Singapore Gen Hosp, Natl Neurosci Inst, Dept Neurol, Singapore 169108, Singapore

[3] Duke NUS Grad Med Sch, Singapore, Singapore

来源：

NEUROBIOLOGY OF AGING | 2014年 / 35卷 / 04期

基金：

英国医学研究理事会;

关键词：

Parkinson's disease; DNAJ family; Association; Mutation; Chinese population;

D O I：

10.1016/j.neurobiolaging.2013.09.018

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Mutations in DNAJC13, DNAJC6 and DNAJC5 have been implicated in Parkinson's disease (PD). To determine if rare coding variants in these genes play a role in PD risk in the Chinese population, we sequenced all coding exons of the three genes in 99 early-onset PD cases and 99 controls, and geno-typed 8 missense variants in another 711 PD cases and 539 controls. Besides two common missense variants that did not show association with PD, the remaining missense variants were extremely rare (<0.5%), found in healthy population controls and did not show enrichment in PD cases. Our results suggest that missense mutations in DNAJC13, DNAJC5 and DNAJC6 do not play a major role in PD in the Chinese population. (C) 2014 Elsevier Inc. All rights reserved.

引用

页码：935.e1 / 935.e2

页数：2

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