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A two-sample Mendelian randomization study and mediation analysis exploring the link between cathepsins and epilepsy
Huaiyu Sun1, Di Ma1, Wuqiong Zhang1
1Neurology Department, First Hospital of Jilin University, Changchun, Jilin, China.
Objective:
This study aims to investigate the causal relationship between cathepsins and epilepsy, using Mendelian randomization (MR) and mediation analysis.
Methods:
Publicly accessible summary statistics on epilepsy were obtained from FinnGen and the International League Against Epilepsy Consortium. Cathepsin genome-wide association data were provided by the IEU OpenGWAS. To evaluate the causal relationship between epilepsy and cathepsins, we conducted a bidirectional two-sample Mendelian randomization (MR) and mediation analysis.
Results:
The results of the MR analysis revealed that elevated cathepsin E levels correlated with a higher likelihood of developing generalized epilepsy (odds ratio: 1.304, 95% confidence interval: 1.127-1.508, p: 0.0004, p adjusted for false discovery rate: 0.044). The mediation analysis identified a disintegrin and metalloproteinase with thrombospondin motifs 4 as having a notable impact (mediation effect: 23.5%) in the causal link between cathepsin E and generalized epilepsy.
Significance:
This study provides evidence of a causal relationship between cathepsin E and generalized epilepsy, suggesting that elevated cathepsin E levels may increase the risk of developing this condition. The identification of a disintegrin and metalloproteinase with thrombospondin motifs 4 as a mediator offers insight into the molecular mechanisms underlying this association, which could guide future research into potential therapeutic targets for epilepsy.
Plain Language Summary:
Epilepsy is a common neurological disorder, but some patients do not respond to standard treatments. This study looks at a protein family called cathepsins and how they might be linked to epilepsy. We found that higher levels of cathepsin E are associated with a higher chance of generalized epilepsy. Our results suggest that cathepsin E could play a key role in causing epilepsy, which could lead to new treatment options for patients who do not respond to current therapies.
