Comprehensive assessment of PINK1 variants in Parkinson's disease
Francis P. Grenn,
Mary B Makarious,
Jonggeol Jeffrey Kim,
Sara Bandres Ciga,
Dorien A. Roosen,
Mike A Nalls,
Andrew B. Singleton,
on behalf of the International Parkinson’s Disease Genomics Consortium (IPDGC)
Posted 27 Jan 2020
medRxiv DOI: 10.1101/2020.01.21.20018101
Posted 27 Jan 2020
Multiple genes have been associated with monogenic Parkinsons disease and Parkinsonism syndromes. Mutations in PINK1 (PARK6) have been shown to result in autosomal recessive early onset Parkinsons disease. In the past decade, several studies have suggested that carrying a single heterozygous PINK1 mutation is associated with increased risk for Parkinsons disease. Here we comprehensively assess the role of PINK1 variants in Parkinsons disease susceptibility using several large datasets totalling 376,558 individuals including: 13,708 Parkinsons disease cases and 362,850 controls. After combining these data, we did not find evidence to support a role for heterozygous PINK1 mutations as a risk factor for Parkinsons disease.
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