Senguttuvan Nagendra Boopathy, Subramanian Vinodhini, Tr Muralidharan, Sankaranarayanan Kavitha, Venkatesan Vettriselvi, Sadagopan Thanikachalam
Department of Cardiology, Sri Ramachandra Institute of Higher Education & Research (SRIHER), Chennai, India.
Department of Human Genetics, Sri Ramachandra Institute of Higher Education & Research (SRIHER), Chennai, India.
Indian Heart J. 2025 Jan-Feb;77(1):51-57. doi: 10.1016/j.ihj.2025.01.006. Epub 2025 Jan 23.
Cardiovascular disease (CVD) is a major driver of mortality and declining health worldwide. Cardiovascular diseases (CVD) is the most common cause of morbidity and mortality globally. Although dyslipidemia, smoking, diabetes, hypertension and obesity are some well-known causes of CVD, the overlapping genetic pathways between other diseases and those affecting cardiovascular health have been overlooked. In the past decade, mutations in TET2, DNMT3A, ASXL1, and JAK2 are found to cause clonal hematopoiesis of intermediate potential (CHIP), a disease associated with age-related haematological malignancies without the presence of cytopenias or dysplasia. Coronary artery disease, heart failure, aortic stenosis, and arrhythmias have been shown to be associated with the presence of CHIP mutations. Addressing the association between CHIP could significantly reduce residual risk patients with CVD. The link between CHIP and CVD can potentially be addressed through inhibitors of inflammasomes, antagonists in the interleukin pathway, or direct antagonists of CHIP mutations.
心血管疾病(CVD)是全球死亡率上升和健康状况下降的主要驱动因素。心血管疾病(CVD)是全球发病和死亡的最常见原因。尽管血脂异常、吸烟、糖尿病、高血压和肥胖是CVD的一些众所周知的病因,但其他疾病与影响心血管健康的疾病之间重叠的遗传途径却被忽视了。在过去十年中,发现TET2、DNMT3A、ASXL1和JAK2的突变会导致中等潜能的克隆性造血(CHIP),这是一种与年龄相关的血液系统恶性肿瘤相关的疾病,不存在血细胞减少或发育异常。冠状动脉疾病、心力衰竭、主动脉瓣狭窄和心律失常已被证明与CHIP突变的存在有关。解决CHIP之间的关联可以显著降低CVD患者的残余风险。CHIP与CVD之间的联系可能通过炎性小体抑制剂、白细胞介素途径拮抗剂或CHIP突变的直接拮抗剂来解决。