Related Experiment Video
Updated: Sep 19, 2025
12:40
A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
Published on: December 7, 2014
15.0K
Aortic Aneurysm Risk and the Somatic JAK2 V617F Mutation: Insights From a Multicenter, Population-Based
Lasse M Obel1,2,3, Joachim S Skovbo1,2,3, Axel C P Diederichsen1,4
1Elite Centre for Individualized Medicine in Arterial Disease (L.M.O., J.S.S., A.C.P.D., L.M.R., J.S.L.), Odense University Hospital, Denmark.
Circulation
|June 4, 2025
Summary
The JAK2 V617F mutation is linked to ascending aortic aneurysms, with higher variant allele frequency correlating with increased risk and size. This genetic factor was not significantly associated with descending or abdominal aortic aneurysms.
Area of Science:
- Cardiovascular Genetics
- Hematology
- Vascular Biology
Background:
- The JAK2 V617F mutation is a key driver of myeloproliferative neoplasms.
- Previous research suggests a link between JAK2 V617F and an increased risk of aortic aneurysms.
Purpose of the Study:
- To investigate the association between JAK2 V617F variant allele frequency (VAF) and the presence and severity of ascending, descending, and abdominal aortic aneurysms.
Main Methods:
- A cross-sectional substudy of the DANCAVAS I and II trials included 8056 participants.
- Participants were tested for the JAK2 V617F sequence variation, and aortic diameters were assessed via computed tomography scans.
Main Results:
- The JAK2 V617F variation was significantly associated with ascending aortic aneurysms, with higher VAF correlating with increased risk and aneurysm size.
- Ascending aortic aneurysms were observed in 6.4% of JAK2 V617F-negative individuals, 9.0% with VAF <1%, and 16.5% with VAF ≥1% (P<0.001).
- No significant associations were found between JAK2 V617F and descending or abdominal aortic aneurysms.
Conclusions:
- The somatic JAK2 V617F variation is independently associated with ascending aortic aneurysms.
- A positive correlation exists between ascending aortic aneurysm size and JAK2 V617F VAF.
- Clinical screening for JAK2 V617F in patients with ascending aortic aneurysms, and vice versa, may be warranted.
More Related Videos
Related Concept Videos
02:21Cancers Originate from Somatic Mutations in a Single Cell
13.1K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
13.1K
01:15Thoracic Aorta
781
The thoracic section of the aorta begins at the T5 vertebra and extends to the T12 level at the diaphragm, initially progressing through the mediastinum to the left of the spinal column. Throughout its course in the thoracic segment, the thoracic aorta emits various offshoots known collectively as visceral and parietal branches. The branches that predominantly supply blood to visceral organs are termed visceral branches and include bronchial, pericardial, esophageal, and mediastinal arteries,...
781
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
27
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
27
01:22Aortic Regurgitation II: Clinical Features and Diagnostic Tests
60
Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
60
01:21Cancer Survival Analysis
458
Cancer survival analysis focuses on quantifying and interpreting the time from a key starting point, such as diagnosis or the initiation of treatment, to a specific endpoint, such as remission or death. This analysis provides critical insights into treatment effectiveness and factors that influence patient outcomes, helping to shape clinical decisions and guide prognostic evaluations. A cornerstone of oncology research, survival analysis tackles the challenges of skewed, non-normally...
458
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
8.2K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
8.2K