Aortic & peripheral vascular diseaseCross-sectional study

Aortic Aneurysm Risk and the Somatic JAK2 V617F Mutation: Insights From a Multicenter, Population-Based Cardiovascular Screening Study

CirculationPublished

  • Cross-sectional study
  • substudy of the DANCAVAS I and II trials
  • multicenter
  • population-based screening

Authors' conclusion

In a study population of primarily men 60 to 74 years of age, the somatic JAK2V617F sequence variation was strongly and independently associated with ascending aortic aneurysms, presenting a positive correlation between aneurysm size and JAK2V617F VAF. No convincing associations were observed for descending or abdominal aneurysms.

Study context

Population
Individuals from Danish CV screening (DANCAVAS) with screening-detected aortic aneurysms, random aneurysm-free male controls and all women from the pilot; primarily men 60 to 74 years90.9% men
Participants
8,056 individuals
Exposure
JAK2V617F variant allele frequency (VAF) <1% and ≥1% vs JAK2V617F-negative
  • JAK2V617F-negativen = 7,486reference
  • VAF <1%n = 491
  • VAF ≥1%n = 79
Outcome
Association of JAK2V617F VAF with ascending, descending and abdominal aortic aneurysms

Main finding

As reported in the abstract

Ascending aortic aneurysm
Each group vs JAK2V617F-negativeAdjusted odds ratio (95% CI)P value
VAF <1%
1.4(1.01–2.0)
P = 0.045
VAF ≥1%
2.7(1.5–5.1)
P = 0.002
Ascending aneurysm prevalence across groups
P < 0.001
Risk of ascending aneurysm per doubling in VAF: increased by 11%
Padjusted=0.013

Observational data: associations, not effects.

Further findings

Median

OutcomeAscending aneurysmControls
Median VAF among JAK2V617F-positive: ascending aneurysm vs controls9.5% (IQR 3.0–40.0)4.4% (IQR 1.8–20.0)
  • Median VAF among JAK2V617F-positive: ascending aneurysm vs controls: P=0.021

JAK2V617F prevalence (overall)

Overall prevalence
7.1%

Descending and abdominal aneurysms

No significant differences across groups; not significantly associated after adjustment

Ascending aortic diameter vs VAF

Spearman ρ
0.10
P
P = 0.026
No significant correlations for descending or abdominal diameters

Original publication

Aortic Aneurysm Risk and the Somatic JAK2 V617F Mutation: Insights From a Multicenter, Population-Based Cardiovascular Screening Study. Circulation. Published 4 June 2025. doi:10.1161/circulationaha.125.074002

Summarised from the published abstract; every number is checked against it