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Proportion of venous thromboembolism attributed to recognized prothrombotic genotypes in men and women

Carl Arne Løchen Arnesen1,2, Line H Evensen1, Kristian Hveem3,4,5

  • 1Thrombosis Research Group, Department of Clinical Medicine, UiT-The Arctic University of Norway, Tromsø, Norway.

Research and Practice in Thrombosis and Haemostasis
|March 13, 2024
PubMed

Insights

Prothrombotic genotypes contribute significantly to venous thromboembolism (VTE) risk. In a Norwegian study, these genotypes accounted for 52% of VTE cases in men and 38% in women.

Area of Science:

  • Genetics
  • Epidemiology
  • Cardiovascular Medicine

Background:

  • Limited data exist on the proportion of venous thromboembolism (VTE) risk attributable to prothrombotic genotypes in both sexes.
  • Understanding genetic contributions to VTE is crucial for risk stratification and prevention strategies.

Purpose of the Study:

  • To estimate the population attributable fraction (PAF) of VTE for common prothrombotic genotypes in men and women.
  • To construct a cumulative VTE risk model based on multiple single-nucleotide polymorphisms (SNPs).

Main Methods:

  • A population-based case-cohort study utilizing data from the Tromsø and Trøndelag Health Study cohorts (1994-2012).
  • Genotyping of 17 VTE-associated SNPs in 1493 VTE cases and 13,069 individuals from a subcohort.
  • Estimation of PAFs with 95% confidence intervals using bootstrap methods and development of a 6-SNP cumulative model.

Main Results:

  • In women, individual SNPs like ABO (rs8176719) and F11 (rs2036914) showed substantial PAFs, contributing to a cumulative PAF of 37.8% for the 6-SNP model.
  • In men, ABO and F11 variants also contributed significantly, leading to a higher cumulative PAF of 51.9% for the same 6-SNP model.
  • Specific PAFs were reported for ABO, F11, FVL, FGG, and F2 SNPs in both sexes.

Conclusions:

  • Known prothrombotic genotypes are significant contributors to VTE risk in the Norwegian population.
  • Approximately 52% of VTE cases in men and 38% in women can be attributed to the investigated prothrombotic genotypes.
  • These findings highlight the importance of genetic factors in VTE etiology and potential for targeted risk assessment.
Abstract

Keywords:
epidemiologyrisk factorssex differencessingle-nucleotide polymorphismvenous thromboembolism

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