ArticleHuman molecular genetics2021
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Article in Human molecular genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 60 citations in OpenAlex.
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- Individualized Bayesian Inference Identifies Novel Genetic Variants for Parkinson's Disease.Genetic epidemiology · 2026Article
- Genome-wide association study of copy number variations in Parkinson's disease.NPJ Parkinson's disease · 2026Article
- The genetic architecture of Parkinson's disease on the Island of Crete.NPJ Parkinson's disease · 2025Article
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- Genome-wide association study of copy number variations in Parkinson's disease.medRxiv : the preprint server for health sciences · 2025Article
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- The role of dopaminergic medication and specific pathway alterations in idiopathic andScience advances · 2025Article
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- The Utility of Long-Read Sequencing in Diagnosing Early Onset Parkinson's Disease.Annals of neurology · 2025Article
- Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Rare Copy Number Variants Intersecting Parkinson's-associated Genes in a Cohort of children With Autism Spectrum Disorders.Neuroscience insights · 2025Article
- Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.NPJ Parkinson's disease · 2024Article
- Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W.Cells · 2024Article
- Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.Brain : a journal of neurology · 2024Observational
- High-depth whole-genome sequencing identifies structure variants, copy number variants and short tandem repeats associated with Parkinson's disease.NPJ Parkinson's disease · 2024Article
- The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson's Disease: a genetic screening study.medRxiv : the preprint server for health sciences · 2024Article
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- PARKIN is not required to sustain OXPHOS function in adult mammalian tissues.NPJ Parkinson's disease · 2024Article
- Genotype-phenotype correlation in PRKN-associated Parkinson's disease.NPJ Parkinson's disease · 2024Article
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
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 loss of association (OR = 1.23, P = 0.614; n = 4). Importantly, when we looked for additional CNVs in 30% of PD cases with apparent monoallellic PRKN mutations, we found that 44% had biallelic mutations, suggesting that previous estimates may be influenced by cryptic biallelic mutation status. While this study supports the association of single PRKN mutations with PD, it highlights confounding effects; therefore, caution is needed when interpreting current risk estimates. Together, we demonstrate that comprehensive assessment of biallelic mutation status is essential when elucidating PD risk associated with monoallelic PRKN mutations.
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