Clonal hematopoiesis of indeterminate potential and cardiovascular disease: mechanistic insights, clinical implications, and the dawn of precision cardio-hematology

克隆性造血与心血管疾病:机制解析、临床意义及精准心血管血液学的曙光

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Abstract

Clonal hematopoiesis of indeterminate potential (CHIP) has substantially advanced our understanding of cardiovascular pathogenesis by demonstrating how somatic mutations in hematopoietic stem cells amplify the bone marrow-heart axis to accelerate atherosclerosis and heart failure, building upon the established role of hematopoietic cells in vascular inflammation. Characterized by the age-associated expansion of hematopoietic stem cell clones harboring somatic mutations-most commonly in TET2, DNMT3A, ASXL1, and JAK2-CHIP affects over 10% of individuals older than 70 years and confers a 1.5- to 2-fold increased risk of coronary heart disease and all-cause mortality, independent of traditional cardiovascular risk factors. This review synthesizes current evidence on the epidemiological associations, molecular mechanisms, and therapeutic implications of CHIP in cardiovascular disease. We critically examine how loss-of-function mutations in epigenetic regulators promote a pro-inflammatory macrophage phenotype through NLRP3 inflammasome activation and IL-1β/IL-6 signaling, thereby accelerating atherogenesis, plaque instability, and myocardial fibrosis. Notably, the cardiovascular impact of CHIP exhibits marked gene-specific heterogeneity: TET2 mutations confer the highest risk and demonstrate the greatest responsiveness to anti-inflammatory therapies, whereas DNMT3A mutations show more modest associations and may operate through distinct pathways. The CANTOS trial exploratory analyses and subsequent studies suggest that IL-1β inhibition with canakinumab and colchicine may preferentially benefit TET2-mutant CHIP carriers, suggesting a future of mutation-guided cardiovascular prevention. However, significant knowledge gaps remain, including the lack of prospective, genotype-stratified clinical trials and limited data in non-European populations. We propose that CHIP represents not merely a risk marker but a modifiable therapeutic target, and advocate for the emergence of "Cardio-Hematology" as a new subspecialty bridging hematology and cardiovascular medicine. As the field evolves from discovery to translation, precision approaches targeting specific CHIP genotypes may fundamentally transform cardiovascular risk stratification and treatment.

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