| Literature DB >> 32249012 |
Lynne Krohn1, Francis P Grenn2, Mary B Makarious2, Jonggeol Jeffrey Kim2, Sara Bandres-Ciga2, Dorien A Roosen2, Ziv Gan-Or3, Mike A Nalls4, Andrew B Singleton2, Cornelis Blauwendraat5.
Abstract
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.Entities:
Keywords: Heterozygous carriers; PINK1; Parkinson's disease; Risk factor; p.G411S
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Year: 2020 PMID： 32249012 PMCID： PMC7236133 DOI： 10.1016/j.neurobiolaging.2020.03.003
Source DB: PubMed Journal: Neurobiol Aging ISSN： 0197-4580 Impact factor: 4.673