Journal
NEUROBIOLOGY OF AGING
Volume 91, Issue -, Pages -Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2020.03.003
Keywords
PINK1; Parkinson's disease; p.G411S; Heterozygous carriers; Risk factor
Categories
Funding
- National Institute of Neurological Disorders and Stroke (NINDS) of the National Institutes of Health, Department of Health and Human Services [1ZIA-NS003154, Z01-AG000949-02, Z01-ES101986]
- National Institute on Aging (NIA) of the National Institutes of Health, Department of Health and Human Services [1ZIA-NS003154, Z01-AG000949-02, Z01-ES101986]
- National Institute of Environmental Health Sciences of the National Institutes of Health, Department of Health and Human Services [1ZIA-NS003154, Z01-AG000949-02, Z01-ES101986]
- UK Biobank [33601]
- Michael J. Fox Foundation for Parkinson's Research
- AbbVie
- Avid
- Biogen
- Bristol-Myers Squibb
- Covance
- GE Healthcare
- Genentech
- GlaxoSmithKline
- Lilly
- Lundbeck
- Merck
- Meso Scale Discovery
- Pfizer
- Piramal
- Roche
- Servier
- Teva
- UCB
- Golub Capital
- Michael J. Fox Foundation
- Canadian Consortium on Neurodegeneration in Aging (CCNA)
- Parkinson Canada
- Canada First Research Excellence Fund (CFREF)
- Fonds de recherche du Quebec -Sante (FRQS) Chercheursboursiers award
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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.
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