AccScience Publishing / GTM / Volume 2 / Issue 3 / DOI: 10.36922/gtm.1583

Genome-wide analysis identifies non-reference transposable element polymorphisms associated with Parkinson’s disease

Hao Wu1,2 Junfeng Luo1,2 Ganqiang Liu1,2*
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1 Shenzhen Key Laboratory for Systems Medicine in Inflammatory Diseases, School of Medicine, Shenzhen Campus of Sun Yat-sen University, Shenzhen, Guangdong, 518107, China
2 Neurobiology Research Center, School of Medicine, Shenzhen Campus of Sun Yat-sen University, Shenzhen, Guangdong, 518107, China
Global Translational Medicine 2023, 2(3), 1583
Submitted: 11 August 2023 | Accepted: 7 October 2023 | Published: 16 October 2023
© 2023 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( )

Parkinson’s disease (PD) is a common neurodegenerative disease that primarily affects the elderly, significantly impacting patients’ health and quality of life. While most genetic studies on PD have focused on single nucleotide polymorphisms, the effects of other forms of genomic variation in PD are yet to be fully elucidated. Transposable elements (TEs) are one of the main sources of human genome structural variation, with known associations with many human diseases. However, their potential connection to PD remains unclear. In this study, we investigated non-reference TE polymorphisms in three independent PD cohorts and explored their associations with both PD risk and progression. Our findings revealed that one non-reference TE is associated with the risk of PD, while two TEs are associated with disease progression. Furthermore, through expression quantitative trait locus (eQTL) analysis, we identified 18 cis TE-eQTLs in an interaction model and 290 cis TE-eQTLs in a non-interaction model. Several non-reference TE polymorphisms are correlated with specific PD-gene expression patterns in trans. These results indicate the feasibility of delving into the genetics of PD through the study of complex genomic variations. Advances in genomics research have the potential to deepen our understanding of this disease and pave the way for further translational medicine research in PD.

Transposable elements
Parkinson’s disease
Genome-wide association studies
Transposable element-expression quantitative trait locus
Shenzhen Fundamental Research Program
National Natural Science Foundation of China
Fundamental Research Funds for the Central Universities, Sun Yat-sen
Young Talent Recruitment Project of Guangdong
Shenzhen Key Laboratory for Systems Medicine in Inflammatory Diseases
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Conflict of interest
All authors report no relevant financial or other conflicts of interest in relation to this study.
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