Proteome-wide Mendelian randomization and colocalization analysis identify therapeutic targets for stroke

Abstract Background Stroke is a leading cause of death and disability worldwide, yet its treatment still faces significant challenges. Mendelian randomization (MR) has been widely used to discover new biomarkers and therapeutic targets. This study aimed to identify therapeutic targets for stroke wit...

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Main Authors: Xueling Zhao, Menghao He, Desheng Zhou, Zhong Li, Lijuan Liu, Renyi Yang, Xinhua Zhu, Cuilan Gong, Siyang Yan
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Neurology
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Online Access:https://doi.org/10.1186/s12883-025-04239-9
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author Xueling Zhao
Menghao He
Desheng Zhou
Zhong Li
Lijuan Liu
Renyi Yang
Xinhua Zhu
Cuilan Gong
Siyang Yan
author_facet Xueling Zhao
Menghao He
Desheng Zhou
Zhong Li
Lijuan Liu
Renyi Yang
Xinhua Zhu
Cuilan Gong
Siyang Yan
author_sort Xueling Zhao
collection DOAJ
description Abstract Background Stroke is a leading cause of death and disability worldwide, yet its treatment still faces significant challenges. Mendelian randomization (MR) has been widely used to discover new biomarkers and therapeutic targets. This study aimed to identify therapeutic targets for stroke within the plasma proteome range using MR. Methods We conducted a two-sample MR study, evaluating the causal relationships between 2,940 plasma proteins from the UK Biobank-Proteome-wide Association Study (UKB-PPP) and stroke, with further validation in 4,907 plasma proteins from Iceland. Subsequently, drug target proteins were determined using Bayesian colocalization, Summary data-based Mendelian randomization (SMR), and protein-protein interaction (PPI) network construction to validate the role of selected disease-associated proteins. Results Preliminary MR analysis identified 11 proteins (LPA, FURIN, MST1, FKBPL, SH2B3, MMP12, F11, ITGAV, DDHD2, VSIR and GAS6) significantly associated with stroke or stroke subtypes. Through SMR and colocalization analysis, 4 potential drug target proteins were identified: FURIN as a potential drug target for stroke and any ischemic stroke, F11 as a potential drug target for cardioembolic stroke, DDHD2 and VSIR as potential drug targets for small vessel stroke. It is worth noting that F11 is currently being used in the development of multiple drugs, FURIN is not only associated with stroke but also appears to have abnormal expression in several cardiovascular diseases. Although research on DDHD2 and VSIR in the context of stroke is relatively limited, current findings indicate that DDHD2 is related to synaptic plasticity, while VSIR is associated with microglia and immune responses. Conclusion This study found that the plasma proteins FURIN, F11, DDHD2, and VSIR show promise as potential therapeutic targets for stroke and its subtypes, providing genetic evidence to support precision drug development and insights into the underlying pathological mechanisms of stroke. Clinical trial number Not applicable.
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spelling doaj-art-afb42e2ac0f44901b465cb1fa62e3bbf2025-08-20T04:01:35ZengBMCBMC Neurology1471-23772025-07-0125111410.1186/s12883-025-04239-9Proteome-wide Mendelian randomization and colocalization analysis identify therapeutic targets for strokeXueling Zhao0Menghao He1Desheng Zhou2Zhong Li3Lijuan Liu4Renyi Yang5Xinhua Zhu6Cuilan Gong7Siyang Yan8The First Hospital of Hunan University of Chinese MedicineThe First Hospital of Hunan University of Chinese MedicineThe First Hospital of Hunan University of Chinese MedicineThe First Hospital of Hunan University of Chinese MedicineThe First Hospital of Hunan University of Chinese MedicineHunan University of Chinese MedicineThe First Hospital of Hunan University of Chinese MedicineThe First Hospital of Traditional Chinese Medicine in Changde, The Changde Affiliated Hospital of Hunan University of Chinese MedicineThe First Hospital of Hunan University of Chinese MedicineAbstract Background Stroke is a leading cause of death and disability worldwide, yet its treatment still faces significant challenges. Mendelian randomization (MR) has been widely used to discover new biomarkers and therapeutic targets. This study aimed to identify therapeutic targets for stroke within the plasma proteome range using MR. Methods We conducted a two-sample MR study, evaluating the causal relationships between 2,940 plasma proteins from the UK Biobank-Proteome-wide Association Study (UKB-PPP) and stroke, with further validation in 4,907 plasma proteins from Iceland. Subsequently, drug target proteins were determined using Bayesian colocalization, Summary data-based Mendelian randomization (SMR), and protein-protein interaction (PPI) network construction to validate the role of selected disease-associated proteins. Results Preliminary MR analysis identified 11 proteins (LPA, FURIN, MST1, FKBPL, SH2B3, MMP12, F11, ITGAV, DDHD2, VSIR and GAS6) significantly associated with stroke or stroke subtypes. Through SMR and colocalization analysis, 4 potential drug target proteins were identified: FURIN as a potential drug target for stroke and any ischemic stroke, F11 as a potential drug target for cardioembolic stroke, DDHD2 and VSIR as potential drug targets for small vessel stroke. It is worth noting that F11 is currently being used in the development of multiple drugs, FURIN is not only associated with stroke but also appears to have abnormal expression in several cardiovascular diseases. Although research on DDHD2 and VSIR in the context of stroke is relatively limited, current findings indicate that DDHD2 is related to synaptic plasticity, while VSIR is associated with microglia and immune responses. Conclusion This study found that the plasma proteins FURIN, F11, DDHD2, and VSIR show promise as potential therapeutic targets for stroke and its subtypes, providing genetic evidence to support precision drug development and insights into the underlying pathological mechanisms of stroke. Clinical trial number Not applicable.https://doi.org/10.1186/s12883-025-04239-9StrokeIschemic strokePlasma proteinsMendelian randomizationDrug targets
spellingShingle Xueling Zhao
Menghao He
Desheng Zhou
Zhong Li
Lijuan Liu
Renyi Yang
Xinhua Zhu
Cuilan Gong
Siyang Yan
Proteome-wide Mendelian randomization and colocalization analysis identify therapeutic targets for stroke
BMC Neurology
Stroke
Ischemic stroke
Plasma proteins
Mendelian randomization
Drug targets
title Proteome-wide Mendelian randomization and colocalization analysis identify therapeutic targets for stroke
title_full Proteome-wide Mendelian randomization and colocalization analysis identify therapeutic targets for stroke
title_fullStr Proteome-wide Mendelian randomization and colocalization analysis identify therapeutic targets for stroke
title_full_unstemmed Proteome-wide Mendelian randomization and colocalization analysis identify therapeutic targets for stroke
title_short Proteome-wide Mendelian randomization and colocalization analysis identify therapeutic targets for stroke
title_sort proteome wide mendelian randomization and colocalization analysis identify therapeutic targets for stroke
topic Stroke
Ischemic stroke
Plasma proteins
Mendelian randomization
Drug targets
url https://doi.org/10.1186/s12883-025-04239-9
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