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Understanding Causal Relationships Between Imaging-Derived Phenotypes and Parkinson's Disease: A Mendelian
Yichi Zhang1, Min Zhong1, Zhao Yang1
1Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Biomedicines
|March 28, 2025
Summary
This study used Mendelian randomization to find causal links between brain imaging phenotypes and Parkinson's disease (PD). Certain brain imaging traits significantly increase PD risk, suggesting potential new biomarkers.
Area of Science:
- Neuroimaging
- Genetics
- Epidemiology
Background:
- Observational studies suggest associations between brain imaging alterations and Parkinson's disease (PD).
- Causal relationships between imaging phenotypes and PD remain underexplored.
- Mendelian randomization (MR) can infer causality from genetic associations.
Purpose of the Study:
- To investigate the causal relationship between brain imaging-derived phenotypes (IDPs) and Parkinson's disease (PD).
- To explore bidirectional causal associations using a two-sample MR approach.
- To validate findings through clinical observation in an independent cohort.
Main Methods:
- Bidirectional two-sample Mendelian randomization analysis.
- Utilized summary-level data from large genome-wide association studies (GWAS) for IDPs and PD.
- Performed clinical validation in an Asian cohort including healthy controls, idiopathic rapid-eye-movement sleep behavior disorder (iRBD), and PD patients.
Main Results:
- Identified 13 imaging-derived phenotypes (IDPs) with significant causal effects on PD.
- Found seven reciprocal causal effects of PD on IDPs.
- Specific findings include increased T2star in the caudate and putamen, and thalamus enlargement associated with PD risk.
Conclusions:
- Established bidirectional causal links between specific brain imaging phenotypes and Parkinson's disease.
- Findings provide insights into PD pathogenesis.
- Suggests potential for IDPs as imaging biomarkers for Parkinson's disease.
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