研究表明，随着年龄的增长，造血干细胞会发生克隆突变，并增加因动脉粥样硬化性血管疾病导致的死亡风险，就像骨髓增生性肿瘤一样。众所周知，内皮细胞（EC）和造血干细胞是在胚胎早期由一种称为成血管细胞的共同干细胞发育而来的。然而，出生后是否存在成血管细胞仍存在争议。在这项研究中，对患有动脉粥样硬化性颈动脉疾病且没有任何血液恶性肿瘤的患者进行了 JAK2 基因变异检查。这项研究纳入了 10 名连续患有症状性动脉粥样硬化性颈动脉狭窄的患者（8 名男性和 2 名女性）。 EC（CD31 CD45-）是从颈动脉内膜切除术采集的组织样本中分离出来的。通过二代测序检测患者的 EC、外周血单核细胞和口腔上皮细胞中的 JAK2 变异。患者的中位年龄为 74（58-80）岁，中位 BMI 为 24,44（18,42-30） ,85) 公斤/平方米。 50%的患者有吸烟史，80%的患者有高血压病史，70%的患者有糖尿病史，70%的患者有缺血性心脏病史。 10名患者中有3名外周血单个核细胞检测到JAK2V617F突变，其中2名患者的EC也有JAK2V617F突变。所有患者的口腔上皮细胞均未发现JAK2V617F突变。本研究在文献中首次发现动脉粥样硬化患者的外周血细胞和EC中均存在JAK2V617F体细胞突变。这一发现可能支持 EC 和造血细胞起源于共同克隆，或者体细胞突变可以通过其他机制传递给 EC。检查 EC 中 JAK2V617F 突变引起的分子和功能变化可能有助于开辟治疗动脉粥样硬化的新途径。

It has been shown that clonal mutations occur in hematopoietic stem cells with advancing age and increase the risk of death due to atherosclerotic vascular diseases, just like in myeloproliferative neoplasms. It is known that endothelial cells (EC) and hematopoietic stem cells develop from a common stem cell called hemangioblast in early embryonic period. However, the presence of hemangioblast in the postnatal period is controversial. In this study, JAK2 gene variants was examined in patients with atherosclerotic carotid disease and without any hematological malignancy.Ten consecutive patients (8 men and 2 women) with symptomatic atherosclerotic carotid stenosis were included in this study. EC (CD31+CD45-) were separated from tissue samples taken by carotid endarterectomy. JAK2 variants was examined in EC, peripheral blood mononuclear cells and oral epithelial cells of the patients with next generation sequencing.The median age of the patients was 74 (58-80) and the median BMI was 24,44 (18,42-30,85) kg/m2. Smoking history was present in 50%, hypertension in 80%, diabetes in 70%, and ischemic heart disease in 70% of the patients. JAK2V617F mutation was detected in peripheral blood mononuclear cells in three out of 10 patients, two of them also had JAK2V617F mutation in their EC. JAK2V617F mutation was not found in oral epithelial cells in any of the patients.In this study, for the first time in the literature, we showed that JAK2V617F mutation was found somatically in both peripheral blood cells and EC in patients with atherosclerosis. This finding may support that EC and hematopoietic cells originate from a common clone or that the somatic mutation can be transmitted to EC by other mechanisms. Examining the molecular and functional changes caused by JAK2V617F mutation in EC may help open a new avenue for treating atherosclerosis.