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. 2020 Jul:91:168.e1-168.e5.
doi: 10.1016/j.neurobiolaging.2020.03.003. Epub 2020 Mar 10.

Comprehensive assessment of PINK1 variants in Parkinson's disease

Lynne Krohn  1 , Francis P Grenn  2 , Mary B Makarious  2 , Jonggeol Jeffrey Kim  2 , Sara Bandres-Ciga  2 , Dorien A Roosen  2 , Ziv Gan-Or  3 , Mike A Nalls  4 , Andrew B Singleton  2 , Cornelis Blauwendraat  5 ; International Parkinson's Disease Genomics Consortium (IPDGC)
Affiliations

Comprehensive assessment of PINK1 variants in Parkinson's disease

Lynne Krohn et al. Neurobiol Aging. 2020 Jul.

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.

Keywords: Heterozygous carriers; PINK1; Parkinson's disease; Risk factor; p.G411S.

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Conflict of interest statement

Competing interests

Dr. Nalls reported receiving support from a consulting contract between Data Tecnica International and the National Institute on Aging (NIA), National Institutes of Health (NIH), and consulting for the Michael J. Fox Foundation, Illumina Inc., Vivid Genomics, Lysosomal Therapeutics Inc., and Neuron23, Inc, among others. Dr. Gan-Or has received consultancy fees from Lysosomal Therapeutics Inc., Idorsia, Denali, Prevail Therapeutics, Deerfield, Ono Therapeutics, Deerfield and Inception Sciences. No other disclosures were reported.

Figures

Figure 1:
Figure 1:. Forest plot of PINK1 p.G411S association results per tested cohort.
Sample sizes can be found in Table 1. CI, Confidence Interval; FE, Fixed-effects.
See this image and copyright information in PMC

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