Comprehensive assessment of PINK1 variants in Parkinson's disease

被引：34
|
作者：
Krohn, Lynne [1 ,2 ]
Grenn, Francis P. [3 ]
Makarious, Mary B. [3 ]
Kim, Jonggeol Jeffrey [3 ]
Bandres-Ciga, Sara [3 ]
Roosen, Dorien A. [3 ]
Gan-Or, Ziv [1 ,2 ,4 ]
Nalls, Mike A. [3 ,5 ]
Singleton, Andrew B. [3 ]
Blauwendraat, Cornelis [3 ]
机构：
[1] McGill Univ, Dept Human Genet, Montreal, PQ, Canada
[2] McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada
[3] NIA, Lab Neurogenet, NIH, Bldg 35,35 Convent Dr, Bethesda, MD 20892 USA
[4] McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada
[5] Data Tecn Int, Glen Echo, MD USA
来源：
NEUROBIOLOGY OF AGING | 2020年 / 91卷
基金：
美国国家卫生研究院;
关键词：
PINK1; Parkinson's disease; p.G411S; Heterozygous carriers; Risk factor; MUTATIONS; RISK; GENES;
D O I：
10.1016/j.neurobiolaging.2020.03.003
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：
Multiple genes have been associated with monogenic Parkinson's disease and Parkinsonism syndromes. Mutations in PINK1 (PARK6) have been shown to result in autosomal recessive early-onset Parkinson's disease. In the past decade, several studies have suggested that carrying a single heterozygous PINK1 mutation is associated with increased risk for Parkinson's disease. Here, we comprehensively assess the role of PINK1 variants in Parkinson's disease susceptibility using several large data sets totalling 376,558 individuals including 13,708 cases with Parkinson's disease and 362,850 control subjects. After combining these data, we did not find evidence to support a role for heterozygous PINK1 mutations as a robust risk factor for Parkinson's disease. Published by Elsevier Inc.
引用
收藏
页码：168.e1 / 168.e5
页数：5
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