ReviewJournal of neural transmission (Vienna, Austria : 1996)2020
Missing heritability in Parkinson's disease: the emerging role of non-coding genetic variation.
Review in Journal of neural transmission (Vienna, Austria : 1996), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Genetic variants associated with idiopathic Parkinson's disease in Latin America: A systematic review.Neurogenetics · 2025Pooled it
- Multi-omics approaches to parkinsonism: genomic, proteomic, and non-coding RNA perspectives.Molecular biology reports · 2026Review
- Striatal Dysregulation of Angpt2 and Circadian Gene Expression in a Rotenone Rat Model of Parkinson's Disease.Journal of molecular neuroscience : MN · 2026Article
- Neural networks reveal novel gene signatures in Parkinson disease from single-nuclei transcriptomes.NPJ Parkinson's disease · 2025Article
- A report of the Iranian Parkinson's disease registry.NPJ Parkinson's disease · 2025Article
- Low-frequency genetic variants in GAK enhance Golgi function and protect against Parkinson's disease.medRxiv : the preprint server for health sciences · 2025Article
- Genetic resonance: dissecting the heritability and genetic correlations of human hearing acuity.G3 (Bethesda, Md.) · 2025Article
- Transcriptomics of Human Brain Tissue in Parkinson's Disease: a Comparison of Bulk and Single-cell RNA Sequencing.Molecular neurobiology · 2024Review
- Defining Parkinson's Disease: Past and Future.Journal of Parkinson's disease · 2024Review
- Shared molecular genetic factors influence subcortical brain morphometry and Parkinson's disease risk.NPJ Parkinson's disease · 2023Article
- Integration of transcriptome-wide association study with neuronal dysfunction assays provides functional genomics evidence for Parkinson's disease genes.Human molecular genetics · 2023Article
- Luxembourg Parkinson's study -comprehensive baseline analysis of Parkinson's disease and atypical parkinsonism.Frontiers in neurology · 2023Article
- SNPs in cytochrome P450 genes decide on the fate of individuals with genetic predisposition to Parkinson's disease.Frontiers in pharmacology · 2023Article
- Age at onset as stratifier in idiopathic Parkinson's disease - effect of ageing and polygenic risk score on clinical phenotypes.NPJ Parkinson's disease · 2022Article
- Normal and Pathological NRF2 Signalling in the Central Nervous System.Antioxidants (Basel, Switzerland) · 2022Review
- Multi-omic insights into Parkinson's Disease: From genetic associations to functional mechanisms.Neurobiology of disease · 2022Review
- Genetic Elements at the Alpha-Synuclein Locus.Frontiers in neuroscience · 2022Review
- Single-nuclei chromatin profiling of ventral midbrain reveals cell identity transcription factors and cell-type-specific gene regulatory variation.Epigenetics & chromatin · 2021Article
- Dysregulation of mitochondrial and proteolysosomal genes in Parkinson's disease myeloid cells.Nature aging · 2021Article
- Evaluation of low-pass genome sequencing in polygenic risk score calculation for Parkinson's disease.Human genomics · 2021Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Parkinson's disease (PD) is a neurodegenerative disorder caused by a complex interplay of genetic and environmental factors. For the stratification of PD patients and the development of advanced clinical trials, including causative treatments, a better understanding of the underlying genetic architecture of PD is required. Despite substantial efforts, genome-wide association studies have not been able to explain most of the observed heritability. The majority of PD-associated genetic variants are located in non-coding regions of the genome. A systematic assessment of their functional role is hampered by our incomplete understanding of genotype-phenotype correlations, for example through differential regulation of gene expression. Here, the recent progress and remaining challenges for the elucidation of the role of non-coding genetic variants is reviewed with a focus on PD as a complex disease with multifactorial origins. The function of gene regulatory elements and the impact of non-coding variants on them, and the means to map these elements on a genome-wide level, will be delineated. Moreover, examples of how the integration of functional genomic annotations can serve to identify disease-associated pathways and to prioritize disease- and cell type-specific regulatory variants will be given. Finally, strategies for functional validation and considerations for suitable model systems are outlined. Together this emphasizes the contribution of rare and common genetic variants to the complex pathogenesis of PD and points to remaining challenges for the dissection of genetic complexity that may allow for better stratification, improved diagnostics and more targeted treatments for PD in the future.
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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.