Page 105 - GTM-2-3

Global Translational Medicine

ORIGINAL RESEARCH ARTICLE
Genome-wide analysis identifies non-reference

transposable element polymorphisms
associated with Parkinson’s disease

1,2
Hao Wu , Junfeng Luo , and Ganqiang Liu *
1,2
1,2
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

Abstract

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)
*Corresponding author: analysis, we identified 18 cis TE-eQTLs in an interaction model and 290 cis TE-eQTLs in
Ganqiang Liu a non-interaction model. Several non-reference TE polymorphisms are correlated with
(liugq3@mail.sysu.edu.cn)
specific PD-gene expression patterns in trans. These results indicate the feasibility of
Citation: Wu H, Luo J, Liu G, 2023, delving into the genetics of PD through the study of complex genomic variations.
Genome-wide analysis identifies
non-reference transposable element Advances in genomics research have the potential to deepen our understanding of
polymorphisms associated with this disease and pave the way for further translational medicine research in PD.
Parkinson’s disease. Global Transl
Med, 2(3): 1583.
https://doi.org/10.36922/gtm.1583 Keywords: Transposable elements; Parkinson’s disease; Genome-wide association
Received: August 11, 2023 studies; Transposable element-expression quantitative trait locus
Accepted: October 7, 2023
Published Online: October 16,
2023
Copyright: © 2023 Author(s). 1. Introduction
This is an Open-Access article
distributed under the terms of the Parkinson’s disease (PD) is a prevalent neurodegenerative disease, second in incidence
Creative Commons Attribution only to Alzheimer’s disease [1,2] . With the global population aging, the number of PD
License, permitting distribution,
and reproduction in any medium, patients is projected to steadily increase, reaching an estimated 12.9 million worldwide
provided the original work is by 2040 [3,4] . Over the past few decades, we have gained a deep understanding of the
properly cited. clinical features of PD, including a wide range of motor and non-motor symptoms [5,6] .
Publisher’s Note: AccScience There are two main pathological features in patients with PD: first, a significant number
Publishing remains neutral with of dopaminergic neurons in the substantia nigra compacta of the midbrain undergo
regard to jurisdictional claims in
published maps and institutional degeneration and death. Second, there is the appearance of Lewy bodies (LB), which are
affiliations. formed due to the aggregation of α-synuclein [7,8] .

Volume 2 Issue 3 (2023) 1 https://doi.org/10.36922/gtm.1583