Fan Wen-Lang, Yeh Jih-Kai, Hsieh Li-Ching, Tsai Ming-Lung, Ho Ming-Yun, Huang Yi-Chun, Hsieh I-Chang, Wen Ming-Shien, Wang Chao-Yung
Department of Medical Research, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
Division of Cardiology, Linkou Medical Center, Chang Gung Memorial Hospital, Taoyuan City, Taiwan.
Hum Genomics. 2025 May 12;19(1):51. doi: 10.1186/s40246-025-00757-2.
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.
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.
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).
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.
为了阐明ST段抬高型心肌梗死（STEMI）患者中具有不确定潜能的克隆性造血（CHIP）的流行程度及其临床意义，并评估其作为长期预后风险分层的一个促成因素的效用。
对101例接受急诊经皮冠状动脉介入治疗的STEMI患者进行了全外显子测序。对这些患者进行了超过120个月的纵向随访。将他们的基因组数据与706名无心血管事件的对照组个体的数据进行比较。进行比较分析以确定STEMI队列和对照组之间CHIP的模式。
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位于ASXL1和CREBBP基因，各占该队列的5.0%。长期随访显示，患有CHIP的STEMI患者主要不良心血管事件（MACE）的发生率更高，调整后的风险比为2.23（95%置信区间（CI）1.16 - 4.28，p = 0.015）。
CHIP在STEMI患者队列中普遍存在，并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患者制定更具针对性的临床管理策略提供依据。
