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Association Between JAK2 V617F Somatic Mutation and Thoracic Aortic Aneurysms.
Simon Collins1, Mohammad A Zafar1, John A Elefteriades1
1Aortic Institute at Yale New Haven Hospital, Yale School of Medicine, New Haven, CT 06511, USA.
Genes
|May 4, 2026
Summary
The JAK2 V617F somatic mutation is linked to thoracic aortic aneurysms. Variant allele frequency (VAF) may serve as a biomarker for aneurysm risk, though its impact on growth rate requires further study.
Area of Science:
- Cardiovascular Genetics
- Hematology
- Molecular Biology
Background:
- Thoracic aortic aneurysms (TAA) are traditionally linked to germline mutations (e.g., FBN1, TGFBR2, COL3A1).
- Emerging research highlights a correlation between the JAK2 V617F somatic mutation and TAA development.
Purpose of the Study:
- To synthesize current evidence on the relationship between JAK2 V617F and thoracic aortic aneurysm formation.
- To evaluate the potential of JAK2 V617F variant allele frequency (VAF) as a biomarker for TAA risk.
Main Methods:
- A comprehensive literature review was performed using PubMed.
- Search terms included "thoracic aortic aneurysm", "somatic mutations", and "JAK2 V617F".
- Relevant clinical datasets and population-based cohort studies were identified and analyzed.
Main Results:
- A consistent association was found between JAK2 V617F and thoracic aortic aneurysm formation.
- JAK2 V617F VAF emerged as a potential biomarker for aneurysm risk.
- The mutation correlates with increased cytokine production, pro-inflammatory leukocytes, and MMPs, driving elastin degradation.
Conclusions:
- Emerging evidence strongly supports the association between JAK2 V617F somatic mutation and TAA.
- JAK2 V617F VAF shows promise as a valuable biomarker for TAA risk.
- Future research is needed to determine if increasing VAF influences aneurysm growth rate.
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