DNA甲基化是一种表观遗传机制，可调节基因表达而不改变健康和疾病中的基因序列。 DNA 甲基转移酶 (DNMT) 是负责 DNA 甲基化的酶，其失调既是疾病的致病机制，也是治疗靶点。 DNMT 通过甲基化外显子和基因间 DNA 区域内的 CpG 岛来改变基因表达，这通常会减少基因转录。最初，人们发现 DNMT 基因突变和病理性 DNMT 蛋白表达会导致血液系统疾病，如骨髓增生性疾病和急性髓性白血病，但最近发现它们会促进心血管疾病，包括冠状动脉疾病和肺动脉高压。我们回顾了 DNMT 的调控和功能，重点关注 DNMT3A 的体细胞突变，这是不确定潜能克隆造血 (CHIP) 的常见原因，也可能与肺动脉高压 (PAH) 的发生有关。造血细胞和心血管组织中 DNMT3A 和其他 CHIP 基因的体细胞突变的积累会产生一种炎症环境，即使在没有血液疾病的情况下也会促进心肺疾病。这篇综述总结了目前对 DNMT 在维持和从头甲基化中的作用的理解，这些甲基化有助于心血管疾病（包括 PAH）的发病机制。

DNA methylation is an epigenetic mechanism that regulates gene expression without altering gene sequences in health and disease. DNA methyltransferases (DNMTs) are enzymes responsible for DNA methylation, and their dysregulation is both a pathogenic mechanism of disease and a therapeutic target. DNMTs change gene expression by methylating CpG islands within exonic and intergenic DNA regions, which typically reduces gene transcription. Initially, mutations in the DNMT genes and pathologic DNMT protein expression were found to cause hematologic diseases, like myeloproliferative disease and acute myeloid leukemia, but recently they have been shown to promote cardiovascular diseases, including coronary artery disease and pulmonary hypertension. We reviewed the regulation and functions of DNMTs, with an emphasis on somatic mutations in DNMT3A, a common cause of clonal hematopoiesis of indeterminant potential (CHIP) that may also be involved in the development of pulmonary arterial hypertension (PAH). Accumulation of somatic mutations in DNMT3A and other CHIP genes in hematopoietic cells and cardiovascular tissues creates an inflammatory environment that promotes cardiopulmonary diseases, even in the absence of hematologic disease. This review summarized the current understanding of the roles of DNMTs in maintenance and de novo methylation that contribute to the pathogenesis of cardiovascular diseases, including PAH.