Prognostic significance of clonal hematopoiesis in STEMI: a 10-year follow-up reveals high-risk gene mutations

Abstract Background To elucidate the extent and clinical implications of clonal hematopoiesis of indeterminate potential (CHIP) prevalence in patients with ST-segment elevation myocardial infarction (STEMI), and to evaluate its utility as a contributory factor for risk stratification in long-term ou...

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Main Authors: Wen-Lang Fan, Jih-Kai Yeh, Li-Ching Hsieh, Ming-Lung Tsai, Ming-Yun Ho, Yi-Chun Huang, I-Chang Hsieh, Ming-Shien Wen, Chao-Yung Wang
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Human Genomics
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Online Access:https://doi.org/10.1186/s40246-025-00757-2
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author Wen-Lang Fan
Jih-Kai Yeh
Li-Ching Hsieh
Ming-Lung Tsai
Ming-Yun Ho
Yi-Chun Huang
I-Chang Hsieh
Ming-Shien Wen
Chao-Yung Wang
author_facet Wen-Lang Fan
Jih-Kai Yeh
Li-Ching Hsieh
Ming-Lung Tsai
Ming-Yun Ho
Yi-Chun Huang
I-Chang Hsieh
Ming-Shien Wen
Chao-Yung Wang
author_sort Wen-Lang Fan
collection DOAJ
description Abstract Background To elucidate the extent and clinical implications of clonal hematopoiesis of indeterminate potential (CHIP) prevalence in patients with ST-segment elevation myocardial infarction (STEMI), and to evaluate its utility as a contributory factor for risk stratification in long-term outcomes. Methods Whole-exome sequencing was performed in a cohort of 101 patients presenting with STEMI who underwent emergency percutaneous coronary intervention. These patients were longitudinally followed for over 120 months. Their genomic data were compared with those from a control group of 706 individuals without cardiovascular events. Comparative analyses were conducted to identify patterns of CHIP between the STEMI and control cohorts. Results In our cohort, 37.6% (n = 38) of STEMI patients exhibited somatic mutations associated with CHIP at a variant allele frequency of 1% or greater, compared to 22.8% (n = 161) in the control group. The most frequently detected mutations in STEMI patients were in the ASXL1 and CREBBP genes, each present in 5.0% of this cohort. Long-term follow-up revealed that STEMI patients with CHIP had a higher incidence of major adverse cardiovascular events (MACEs), with an adjusted hazard ratio of 2.23 (95% confidence interval (CI) 1.16–4.28, p = 0.015). Conclusion CHIP is prevalent in the STEMI patient cohort and is significantly correlated with adverse clinical outcomes. Incorporating CHIP status could enhance the risk stratification process, thus informing more tailored clinical management strategies for STEMI patients.
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spelling doaj-art-91e3ea53a2ef4807a0fd465581c300052025-08-20T01:51:30ZengBMCHuman Genomics1479-73642025-05-0119111410.1186/s40246-025-00757-2Prognostic significance of clonal hematopoiesis in STEMI: a 10-year follow-up reveals high-risk gene mutationsWen-Lang Fan0Jih-Kai Yeh1Li-Ching Hsieh2Ming-Lung Tsai3Ming-Yun Ho4Yi-Chun Huang5I-Chang Hsieh6Ming-Shien Wen7Chao-Yung Wang8Department of Medical Research, Kaohsiung Chang Gung Memorial HospitalDivision of Cardiology, Linkou Medical Center, Chang Gung Memorial HospitalGraduate Institute of Genomics and Bioinformatics, National Chung Hsing UniversitySchool of Medicine, College of Medicine, Chang Gung UniversityDivision of Cardiology, Linkou Medical Center, Chang Gung Memorial HospitalDivision of Cardiology, Linkou Medical Center, Chang Gung Memorial HospitalDivision of Cardiology, Linkou Medical Center, Chang Gung Memorial HospitalDivision of Cardiology, Linkou Medical Center, Chang Gung Memorial HospitalDivision of Cardiology, Linkou Medical Center, Chang Gung Memorial HospitalAbstract Background To elucidate the extent and clinical implications of clonal hematopoiesis of indeterminate potential (CHIP) prevalence in patients with ST-segment elevation myocardial infarction (STEMI), and to evaluate its utility as a contributory factor for risk stratification in long-term outcomes. Methods Whole-exome sequencing was performed in a cohort of 101 patients presenting with STEMI who underwent emergency percutaneous coronary intervention. These patients were longitudinally followed for over 120 months. Their genomic data were compared with those from a control group of 706 individuals without cardiovascular events. Comparative analyses were conducted to identify patterns of CHIP between the STEMI and control cohorts. Results In our cohort, 37.6% (n = 38) of STEMI patients exhibited somatic mutations associated with CHIP at a variant allele frequency of 1% or greater, compared to 22.8% (n = 161) in the control group. The most frequently detected mutations in STEMI patients were in the ASXL1 and CREBBP genes, each present in 5.0% of this cohort. Long-term follow-up revealed that STEMI patients with CHIP had a higher incidence of major adverse cardiovascular events (MACEs), with an adjusted hazard ratio of 2.23 (95% confidence interval (CI) 1.16–4.28, p = 0.015). Conclusion CHIP is prevalent in the STEMI patient cohort and is significantly correlated with adverse clinical outcomes. Incorporating CHIP status could enhance the risk stratification process, thus informing more tailored clinical management strategies for STEMI patients.https://doi.org/10.1186/s40246-025-00757-2Clonal hematopoiesisST-segment elevation myocardial infarctionMajor adverse cardiovascular events
spellingShingle Wen-Lang Fan
Jih-Kai Yeh
Li-Ching Hsieh
Ming-Lung Tsai
Ming-Yun Ho
Yi-Chun Huang
I-Chang Hsieh
Ming-Shien Wen
Chao-Yung Wang
Prognostic significance of clonal hematopoiesis in STEMI: a 10-year follow-up reveals high-risk gene mutations
Human Genomics
Clonal hematopoiesis
ST-segment elevation myocardial infarction
Major adverse cardiovascular events
title Prognostic significance of clonal hematopoiesis in STEMI: a 10-year follow-up reveals high-risk gene mutations
title_full Prognostic significance of clonal hematopoiesis in STEMI: a 10-year follow-up reveals high-risk gene mutations
title_fullStr Prognostic significance of clonal hematopoiesis in STEMI: a 10-year follow-up reveals high-risk gene mutations
title_full_unstemmed Prognostic significance of clonal hematopoiesis in STEMI: a 10-year follow-up reveals high-risk gene mutations
title_short Prognostic significance of clonal hematopoiesis in STEMI: a 10-year follow-up reveals high-risk gene mutations
title_sort prognostic significance of clonal hematopoiesis in stemi a 10 year follow up reveals high risk gene mutations
topic Clonal hematopoiesis
ST-segment elevation myocardial infarction
Major adverse cardiovascular events
url https://doi.org/10.1186/s40246-025-00757-2
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