ArticleNPJ Parkinson's disease2024
Analysis of rare Parkinson's disease variants in millions of people.
Article in NPJ Parkinson's disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.Movement disorders : official journal of the Movement Disorder Society · 2025Pooled it
- Data from the ROPAD study corroborate an association between ITSN1 loss-of-function variants and Parkinson's disease.NPJ Parkinson's disease · 2026Article
- Rare Variants May Influence Disease Risk and Clinical Features in Sporadic Late-Onset Chinese Parkinson's Disease Patients.International journal of molecular sciences · 2026Article
- NERINE reveals rare variant associations in gene networks across phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson's disease.Cell genomics · 2026Article
- POLG-Related Parkinsonism with Good Response to Deep Brain Stimulation.Movement disorders clinical practice · 2026Article
- Subtyping Alzheimer's disease and Parkinson's disease using longitudinal electronic health records.Nature aging · 2026Article
- VMAT2 dysfunction impairs vesicular dopamine uptake, driving its oxidation and α-synuclein pathology in DJ-1-linked Parkinson's neurons.Science advances · 2026Article
- LRRK2 as a Potential Disease-Modifying Target in Sporadic Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2026Review
- The genetic architecture of Parkinson's disease on the Island of Crete.NPJ Parkinson's disease · 2025Article
- Challenges and Opportunities in Characterizing the Genetics of Stuttering: From Sample Acquisition to Functional Interpretation of the Genome.Journal of speech, language, and hearing research : JSLHR · 2025Review
- Article
- A multi-dimensional view on the etiology of Parkinson's disease.NPJ Parkinson's disease · 2025Review
- Chromosome 12 and Environmental Factors in Parkinson's Disease: An All of Us Data Analysis.Genes · 2025Article
- Moderate Chronic Treadmill Exercise Slows Dopaminergic Neuron Loss in a Rat Model of Parkinson's Disease and Alters RNA Content of Circulating Plasma Exosomes.Journal of neuroscience research · 2025Article
- Orthogonal validation of PD Biomarkers: Multi-platform proteomics profiling of CSF, Plasma, and Urine confirms DDC as a consistent candidate.medRxiv : the preprint server for health sciences · 2025Article
- A Transcriptomic Roadmap of Parkinson's Disease Progression at Single Cell Resolution.medRxiv : the preprint server for health sciences · 2025Article
- Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis.Scientific reports · 2025Article
- Review
- LRRK2 rare-variant per-domain genetic burden in Parkinson's Disease: association confined to the kinase domain.NPJ Parkinson's disease · 2025Article
- Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
Although many rare variants have been reportedly associated with Parkinson's disease (PD), many have not been replicated or have failed to replicate. Here, we conduct a large-scale replication of rare PD variants. We assessed a total of 27,590 PD cases, 6701 PD proxies, and 3,106,080 controls from three data sets: 23andMe, Inc., UK Biobank, and AMP-PD. Based on well-known PD genes, 834 variants of interest were selected from the ClinVar annotated 23andMe dataset. We performed a meta-analysis using summary statistics of all three studies. The meta-analysis resulted in five significant variants after Bonferroni correction, including variants in GBA1 and LRRK2. Another eight variants are strong candidate variants for their association with PD. Here, we provide the largest rare variant meta-analysis to date, providing information on confirmed and newly identified variants for their association with PD using several large databases. Additionally we also show the complexities of studying rare variants in large-scale cohorts.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.