ArticleNPJ Parkinson's disease2021
Reference SVA insertion polymorphisms are associated with Parkinson's Disease progression and differential gene expression.
Article in NPJ Parkinson's disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 54 citations in OpenAlex.
- Protocol to identify SINE-VNTR-Alu regulators using genome-wide screening in human K562 cells.STAR protocols · 2026Article
- Application of GBD 2021 and multiple omics to reveal the association and potential mechanism between glycated hemoglobin and intervertebral disc degeneration.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- Longitudinal Repeatome Remodeling in Peripheral Blood Following Parkinson's Disease Diagnosis.Genes · 2026Article
- Bidirectional mediation between microbiota and immune system in Parkinson disease: A two-sample Mendelian randomization study.Medicine · 2026Article
- Human Endogenous Retroviruses and Diseases.MedComm · 2025Review
- Investigating the role of transposable elements in shaping abdominal fat and egg production phenotypic traits in geese.BMC genomics · 2025Article
- Human Endogenous Retrovirus K in Astrocytes Is Altered in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Article
- Characterisation of the function of a lncRNA containing SINE-VNTR-Alu 67 to regulate the genes at theExperimental biology and medicine (Maywood, N.J.) · 2025Article
- The landscape of non-reference SINE-VNTR-Alus in amyotrophic lateral sclerosis.Experimental biology and medicine (Maywood, N.J.) · 2025Article
- Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism.American journal of human genetics · 2024Article
- Mini-heterochromatin domains constrain the cis-regulatory impact of SVA transposons in human brain development and disease.Nature structural & molecular biology · 2024Article
- Article
- Review
- Insights into Calpain Activation and Rho-ROCK Signaling in Parkinson's Disease and Aging.Biomedicines · 2024Review
- Deciphering the role of a SINE-VNTR-Alu retrotransposon polymorphism as a biomarker of Parkinson's disease progression.Scientific reports · 2024Article
- Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expressions in the Central Nervous System.Biomolecules · 2024Article
- Transposable Elements: Emerging Therapeutic Targets in Neurodegenerative Diseases.Neurotoxicity research · 2024Review
- A SINE-VNTR-Alu at the LRIG2 locus is associated with proximal and distal gene expression in CRISPR and population models.Scientific reports · 2024Article
- Regulatory SVA retrotransposons and classical HLA genotyped-transcripts associated with Parkinson's disease.Frontiers in immunology · 2024Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The development of Parkinson's disease (PD) involves a complex interaction of genetic and environmental factors. Genome-wide association studies using extensive single nucleotide polymorphism datasets have identified many loci involved in disease. However much of the heritability of Parkinson's disease is still to be identified and the functional elements associated with the risk to be determined and understood. To investigate the component of PD that may involve complex genetic variants we characterised the hominid specific retrotransposon SINE-VNTR-Alus (SVAs) in the Parkinson's Progression Markers Initiative cohort utilising whole genome sequencing. We identified 81 reference SVAs polymorphic for their presence/absence, seven of which were associated with the progression of the disease and with differential gene expression in whole blood RNA sequencing data. This study highlights the importance of addressing SVA variants and potentially other types of retrotransposons in PD genetics, furthermore, these SVA elements should be considered as regulatory domains that could play a role in disease progression.
Identifiers
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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.