Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression

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 Parkins...

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Autores principales:	Abigail L. Pfaff, Vivien J. Bubb, John P. Quinn, Sulev Koks
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/78795e36eac14be780ff37628f4d84cb
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spelling	oai:doaj.org-article:78795e36eac14be780ff37628f4d84cb2021-12-02T14:47:32ZReference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression10.1038/s41531-021-00189-42373-8057https://doaj.org/article/78795e36eac14be780ff37628f4d84cb2021-05-01T00:00:00Zhttps://doi.org/10.1038/s41531-021-00189-4https://doaj.org/toc/2373-8057Abstract 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.Abigail L. PfaffVivien J. BubbJohn P. QuinnSulev KoksNature PortfolioarticleNeurology. Diseases of the nervous systemRC346-429ENnpj Parkinson's Disease, Vol 7, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neurology. Diseases of the nervous system RC346-429
spellingShingle	Neurology. Diseases of the nervous system RC346-429 Abigail L. Pfaff Vivien J. Bubb John P. Quinn Sulev Koks Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression
description	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.
format	article
author	Abigail L. Pfaff Vivien J. Bubb John P. Quinn Sulev Koks
author_facet	Abigail L. Pfaff Vivien J. Bubb John P. Quinn Sulev Koks
author_sort	Abigail L. Pfaff
title	Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression
title_short	Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression
title_full	Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression
title_fullStr	Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression
title_full_unstemmed	Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression
title_sort	reference sva insertion polymorphisms are associated with parkinson’s disease progression and differential gene expression
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/78795e36eac14be780ff37628f4d84cb
work_keys_str_mv	AT abigaillpfaff referencesvainsertionpolymorphismsareassociatedwithparkinsonsdiseaseprogressionanddifferentialgeneexpression AT vivienjbubb referencesvainsertionpolymorphismsareassociatedwithparkinsonsdiseaseprogressionanddifferentialgeneexpression AT johnpquinn referencesvainsertionpolymorphismsareassociatedwithparkinsonsdiseaseprogressionanddifferentialgeneexpression AT sulevkoks referencesvainsertionpolymorphismsareassociatedwithparkinsonsdiseaseprogressionanddifferentialgeneexpression
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Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression

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