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Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk by Steven J Lubbe; Bernabe I Bustos; Jing Hu; Dimitri Krainc; Theresita Joseph; Jason Hehir; Manuela Tan; Weijia Zhang; Valentina Escott-Price; Nigel M Williams; Cornelis Blauwendraat; Andrew B Singleton; Huw R Morris is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Abstract Biallelic Parkin (__PRKN__) mutations cause autosomal recessive Parkinson’s disease (PD); however, the role of monoallelic __PRKN__ mutations as a risk factor for PD remains unclear. We investigated the role of single heterozygous __PRKN__ mutations in three large independent case-control cohorts totalling 10 858 PD cases and 8328 controls. Overall, after exclusion of biallelic carriers, single __PRKN__ mutations were more common in PD than controls conferring a >1.5-fold increase in the risk of PD [__P__-value (__P__) = 0.035], with meta-analysis (19 574 PD cases and 468 488 controls) confirming increased risk [Odds ratio (OR) = 1.65, __P__ = 3.69E-07]. Carriers were shown to have significantly younger ages at the onset compared with non-carriers (NeuroX: 56.4 vs. 61.4 years; exome: 38.5 vs. 43.1 years). Stratifying by mutation type, we provide preliminary evidence for a more pathogenic risk profile for single __PRKN__ copy number variant (CNV) carriers compared with single nucleotide variant carriers. Studies that did not assess biallelic __PRKN__ mutations or consist of predominantly early-onset cases may be biasing these estimates, and removal of these resulted in a

Who reads Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk?

Author

Steven J Lubbe; Bernabe I Bustos; Jing Hu; Dimitri Krainc; Theresita Joseph; Jason Hehir; Manuela Tan; Weijia Zhang; Valentina Escott-Price; Nigel M Williams; Cornelis Blauwendraat; Andrew B Singleton; Huw R Morris

Publisher

Oxford University Press (OUP)

Published

2021

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)