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Article

Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.

Human molecular genetics - 25 Mar 2021

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

Abstract excerpt

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...

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Identifiers

PMID: 33448283
DOI: 10.1093/hmg/ddaa273
PMCID: PMC8033143

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