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

Pfaff, A.L.ORCID: 0000-0002-2231-9800, Bubb, V.J., Quinn, J.P. and Kõks, S. (2021) Reference SVA insertion polymorphisms are associated with Parkinson’s disease progression and differential gene expression. npj Parkinson's Disease, 7 . Article 44.

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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.

Item Type: Journal Article
Murdoch Affiliation(s): Medical, Molecular and Forensic Sciences
Publisher: Nature Publishing Group
Copyright: © The Author(s) 2021
United Nations SDGs: Goal 3: Good Health and Well-Being
URI: http://researchrepository.murdoch.edu.au/id/eprint/61083
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