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

IF 3.8 3区医学 Q2 GENETICS & HEREDITY

Human Genomics Pub Date : 2025-05-12 DOI:10.1186/s40246-025-00757-2

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

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引用次数: 0

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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STEMI患者克隆造血的预后意义：10年随访揭示高危基因突变

背景：阐明st段抬高型心肌梗死（STEMI）患者克隆造血不确定电位（CHIP）患病率的程度和临床意义，并评估其作为长期预后风险分层因素的效用。方法：对101例急诊经皮冠状动脉介入治疗的STEMI患者进行全外显子组测序。这些患者被纵向随访超过120个月。研究人员将他们的基因组数据与706名没有心血管事件的对照组进行了比较。进行比较分析，以确定STEMI和对照队列之间的CHIP模式。结果：在我们的队列中，37.6% （n = 38）的STEMI患者表现出与CHIP相关的体细胞突变，变异等位基因频率为1%或更高，而对照组为22.8% （n = 161）。STEMI患者中最常检测到的突变是ASXL1和CREBBP基因，各占该队列的5.0%。长期随访显示，STEMI患者合并CHIP的主要心血管不良事件（mace）发生率较高，校正风险比为2.23（95%置信区间（CI） 1.16 ~ 4.28, p = 0.015）。结论：CHIP在STEMI患者队列中普遍存在，且与不良临床结局显著相关。纳入CHIP状态可以加强风险分层过程，从而为STEMI患者提供更有针对性的临床管理策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human Genomics GENETICS & HEREDITY-

CiteScore

6.00

自引率

2.20%

发文量

审稿时长

11 weeks

期刊介绍： Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.