{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Frohlich A"],"funding":["MSWA and Perron Institute for Neurological and Translational Science","Andrzej Wlodarski Memorial Research PhD scholarship","Darby Rimmer Foundation","Andrzej Wlodarski Memorial Research Fund","Motor Neurone Disease Association"],"pagination":["10932"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11091082"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(1)"],"pubmed_abstract":["SINE-VNTR-Alu (SVA) retrotransposons are transposable elements which represent a source of genetic variation. We previously demonstrated that the presence/absence of a human-specific SVA, termed SVA_67, correlated with the progression of Parkinson's disease (PD). In the present study, we demonstrate that SVA_67 acts as expression quantitative trait loci, thereby exhibiting a strong regulatory effect across the genome using whole genome and transcriptomic data from the Parkinson's progression markers initiative cohort. We further show that SVA_67 is polymorphic for its variable number tandem repeat domain which correlates with both regulatory properties in a luciferase reporter gene assay in vitro and differential expression of multiple genes in vivo. Additionally, this variation's utility as a biomarker is reflected in a correlation with a number of PD progression markers. These experiments highlight the plethora of transcriptomic and phenotypic changes associated with SVA_67 polymorphism which should be considered when investigating the missing heritability of neurodegenerative diseases."],"journal":["Scientific reports"],"pubmed_title":["Deciphering the role of a SINE-VNTR-Alu retrotransposon polymorphism as a biomarker of Parkinson's disease progression."],"pmcid":["PMC11091082"],"funding_grant_id":["ref Quinn/Apr20/875-791","Quinn/Apr20/875-791"],"pubmed_authors":["Frohlich A","Quinn JP","Bubb VJ","Koks S","Pfaff AL","Hughes LS","Middlehurst B"],"additional_accession":[]},"is_claimable":false,"name":"Deciphering the role of a SINE-VNTR-Alu retrotransposon polymorphism as a biomarker of Parkinson's disease progression.","description":"SINE-VNTR-Alu (SVA) retrotransposons are transposable elements which represent a source of genetic variation. We previously demonstrated that the presence/absence of a human-specific SVA, termed SVA_67, correlated with the progression of Parkinson's disease (PD). In the present study, we demonstrate that SVA_67 acts as expression quantitative trait loci, thereby exhibiting a strong regulatory effect across the genome using whole genome and transcriptomic data from the Parkinson's progression markers initiative cohort. We further show that SVA_67 is polymorphic for its variable number tandem repeat domain which correlates with both regulatory properties in a luciferase reporter gene assay in vitro and differential expression of multiple genes in vivo. Additionally, this variation's utility as a biomarker is reflected in a correlation with a number of PD progression markers. These experiments highlight the plethora of transcriptomic and phenotypic changes associated with SVA_67 polymorphism which should be considered when investigating the missing heritability of neurodegenerative diseases.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 May","modification":"2026-06-02T11:35:53.323Z","creation":"2026-05-27T03:12:12.554Z"},"accession":"S-EPMC11091082","cross_references":{"pubmed":["38740892"],"doi":["10.1038/s41598-024-61753-5"]}}