ArticleScientific reports2016
Enrichment of risk SNPs in regulatory regions implicate diverse tissues in Parkinson's disease etiology.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 55 citations in OpenAlex.
- Artificial intelligence and multiomics integration for Parkinson's disease drug development.Molecules and cells · 2026Review
- A review of post-GWAS studies in schizophrenia.Translational psychiatry · 2025Review
- Rethinking GWAS: how lessons from genetic screens and artificial intelligence could reveal biological mechanisms.Bioinformatics (Oxford, England) · 2025Article
- Article
- Parkinson's disease risk enhancers in microglia.iScience · 2024Article
- Parkinson's disease: From genetics to molecular dysfunction and targeted therapeutic approaches.Genes & diseases · 2023Review
- Reduced synaptic activity and dysregulated extracellular matrix pathways in midbrain neurons from Parkinson's disease patients.NPJ Parkinson's disease · 2022Article
- Functional genomics elucidates regulatory mechanisms of Parkinson's disease-associated variants.BMC medicine · 2022Article
- Multi-omic insights into Parkinson's Disease: From genetic associations to functional mechanisms.Neurobiology of disease · 2022Review
- Parkinson's disease risk genes act in glia to control neuronal α-synuclein toxicity.Neurobiology of disease · 2021Article
- Heritability Enrichment Implicates Microglia in Parkinson's Disease Pathogenesis.Annals of neurology · 2021Article
- Single-Cell RNA Sequencing in Parkinson's Disease.Biomedicines · 2021Review
- Integrative analysis identifies bHLH transcription factors as contributors to Parkinson's disease risk mechanisms.Scientific reports · 2021Article
- Allele-specific expression of Parkinson's disease susceptibility genes in human brain.Scientific reports · 2021Article
- Analysis of master transcription factors related to Parkinson's disease through the gene transcription regulatory network.Archives of medical science : AMS · 2021Article
- Microglia, inflammation and gut microbiota responses in a progressive monkey model of Parkinson's disease: A case series.Neurobiology of disease · 2020Article
- Epigenetics in Lewy Body Diseases: Impact on Gene Expression, Utility as a Biomarker, and Possibilities for Therapy.International journal of molecular sciences · 2020Review
- Iroquois Homeobox Protein 2 Identified as a Potential Biomarker for Parkinson's Disease.International journal of molecular sciences · 2020Article
- Missing heritability in Parkinson's disease: the emerging role of non-coding genetic variation.Journal of neural transmission (Vienna, Austria : 1996) · 2020Review
- Epigenetic Vulnerability of Insulator CTCF Motifs at Parkinson's Disease-Associated Genes in Response to Neurotoxicant Rotenone.Frontiers in genetics · 2020Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent genome-wide association studies (GWAS) of Parkinson's disease (PD) revealed at least 26 risk loci, with associated single nucleotide polymorphisms (SNPs) located in non-coding DNA having unknown functions in risk. In order to explore in which cell types these SNPs (and their correlated surrogates at r(2) ≥ 0.8) could alter cellular function, we assessed their location overlap with histone modification regions that indicate transcription regulation in 77 diverse cell types. We found statistically significant enrichment of risk SNPs at 12 loci in active enhancers or promoters. We investigated 4 risk loci in depth that were most significantly enriched (-logeP > 14) and contained 8 putative enhancers in the different cell types. These enriched loci, along with eQTL associations, were unexpectedly present in non-neuronal cell types. These included lymphocytes, mesendoderm, liver- and fat-cells, indicating that cell types outside the brain are involved in the genetic predisposition to PD. Annotating regulatory risk regions within specific cell types may unravel new putative risk mechanisms and molecular pathways that contribute to PD development.
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