Exploring the causal relationship between iron status and subarachnoid hemorrhage based on two sample mendelian randomization

Abstract This study investigates the causal association between genetic prediction of iron status and subarachnoid hemorrhage (SAH). A two-sample MR analysis was conducted using genome-wide association study (GWAS) summary data for four iron biomarkers: serum iron, serum ferritin, total iron-binding...

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Main Authors: Qian Chen, Weiling Shou, Li Zhang, Jiaying Fang, Ye Guo
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-00203-2
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author Qian Chen
Weiling Shou
Li Zhang
Jiaying Fang
Ye Guo
author_facet Qian Chen
Weiling Shou
Li Zhang
Jiaying Fang
Ye Guo
author_sort Qian Chen
collection DOAJ
description Abstract This study investigates the causal association between genetic prediction of iron status and subarachnoid hemorrhage (SAH). A two-sample MR analysis was conducted using genome-wide association study (GWAS) summary data for four iron biomarkers: serum iron, serum ferritin, total iron-binding capacity (TIBC), and transferrin saturation (TSAT). Genetic variants were selected as instrumental variables (IVs) to minimize confounding. Causal estimates were obtained using inverse variance weighting (IVW), MR-Egger, weighted median, and weighted mode methods. Sensitivity analyses, including Cochran’s Q-test, MR-Egger regression, MR-PRESSO, and leave-one-out analysis, were performed to assess heterogeneity and pleiotropy. IVW analysis revealed a significant association between increased genetically predicted TIBC and higher SAH risk (OR = 1.71, 95% CI: 1.21–2.41, P = 0.002), while higher TSAT was associated with lower SAH risk (OR = 0.76, 95% CI: 0.62–0.93, P = 0.01). No causal association was found between serum iron, serum ferritin, and SAH. Sensitivity analyses confirmed the robustness of the results, with no evidence of horizontal pleiotropy. However, heterogeneity was detected in serum ferritin, suggesting potential variability in its effect. This MR study provides genetic evidence for the causal relationship between TIBC, TSAT, and SAH risk. These findings highlight the potential role of iron metabolism in SAH pathophysiology, warranting further investigation.
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spelling doaj-art-9bd83c829b4644dd994348ac1b7a65e02025-08-20T03:52:24ZengNature PortfolioScientific Reports2045-23222025-05-0115111110.1038/s41598-025-00203-2Exploring the causal relationship between iron status and subarachnoid hemorrhage based on two sample mendelian randomizationQian Chen0Weiling Shou1Li Zhang2Jiaying Fang3Ye Guo4Department of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical CollegeDepartment of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical CollegeDepartment of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical CollegeDepartment of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical CollegeDepartment of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical CollegeAbstract This study investigates the causal association between genetic prediction of iron status and subarachnoid hemorrhage (SAH). A two-sample MR analysis was conducted using genome-wide association study (GWAS) summary data for four iron biomarkers: serum iron, serum ferritin, total iron-binding capacity (TIBC), and transferrin saturation (TSAT). Genetic variants were selected as instrumental variables (IVs) to minimize confounding. Causal estimates were obtained using inverse variance weighting (IVW), MR-Egger, weighted median, and weighted mode methods. Sensitivity analyses, including Cochran’s Q-test, MR-Egger regression, MR-PRESSO, and leave-one-out analysis, were performed to assess heterogeneity and pleiotropy. IVW analysis revealed a significant association between increased genetically predicted TIBC and higher SAH risk (OR = 1.71, 95% CI: 1.21–2.41, P = 0.002), while higher TSAT was associated with lower SAH risk (OR = 0.76, 95% CI: 0.62–0.93, P = 0.01). No causal association was found between serum iron, serum ferritin, and SAH. Sensitivity analyses confirmed the robustness of the results, with no evidence of horizontal pleiotropy. However, heterogeneity was detected in serum ferritin, suggesting potential variability in its effect. This MR study provides genetic evidence for the causal relationship between TIBC, TSAT, and SAH risk. These findings highlight the potential role of iron metabolism in SAH pathophysiology, warranting further investigation.https://doi.org/10.1038/s41598-025-00203-2Mendelian randomizationIVWIron statusGenome-wide association analysisSubarachnoid hemorrhage
spellingShingle Qian Chen
Weiling Shou
Li Zhang
Jiaying Fang
Ye Guo
Exploring the causal relationship between iron status and subarachnoid hemorrhage based on two sample mendelian randomization
Scientific Reports
Mendelian randomization
IVW
Iron status
Genome-wide association analysis
Subarachnoid hemorrhage
title Exploring the causal relationship between iron status and subarachnoid hemorrhage based on two sample mendelian randomization
title_full Exploring the causal relationship between iron status and subarachnoid hemorrhage based on two sample mendelian randomization
title_fullStr Exploring the causal relationship between iron status and subarachnoid hemorrhage based on two sample mendelian randomization
title_full_unstemmed Exploring the causal relationship between iron status and subarachnoid hemorrhage based on two sample mendelian randomization
title_short Exploring the causal relationship between iron status and subarachnoid hemorrhage based on two sample mendelian randomization
title_sort exploring the causal relationship between iron status and subarachnoid hemorrhage based on two sample mendelian randomization
topic Mendelian randomization
IVW
Iron status
Genome-wide association analysis
Subarachnoid hemorrhage
url https://doi.org/10.1038/s41598-025-00203-2
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