Somatic mutation of the V617F JAK2 gene in patients of the cardiovascular diseases

• Main Authors: I A Olkhovskiy, A S Gorbenko, M A Stolyar, D A Grischenko, O A Tkachenko, T L Martsinkevich
• Format: Article
• Language: Russian
• Published: "Consilium Medicum" Publishing house 2019-07-01
• Series: Терапевтический архив
• Subjects: atherosclerosis; chd (coronary heart disease); somatic mutation jak2 v617f; clonal hematopoiesis of indeterminate potential (chip); mpn (myeloproliferative neoplasms)
• Online Access: https://ter-arkhiv.ru/0040-3660/article/view/33576

The JAK2 V617F somatic mutation is one of the most frequent markers of CHIP (clonal hematopoiesis of indeterminate potential). CHIP is characterized by the presence of a myeloid cells clone in peripheral blood in the absence of the sufficient reasons to diagnose the hematologic disease. The CHIP is proposed as a potential independent risk factor for vascular pathology. The aim of this study is to identify carriers of JAK2 V617F mutation among patients admitted for planned hospitalization at the Federal Center of Cardiovascular Surgery of Krasnoyarsk. Materials and methods. The study included 930 venous blood samples. JAK2 V617F mutation was detected by using the allele - specific real time polymerase chain reaction. Results. JAK2 V617F mutation was detected in 15 (1.6%) patients, but only two of them had blood cell count that could cause a hematological disease to be suspected. Conclusion. The inclusion of the JAK2 V617F mutation detection in the complex of laboratory tests of the cardiovascular patients can facilitate the timely identification of patients with increased thrombotic risk, as well as the timely diagnosis of myeloproliferative diseases.