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The Sex-Related Risk of Venous Thromboembolism Attributed to Recognized Prothrombotic Genotypes

1UiT-The Arctic University of Norway, K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, Tromsø, Norway, 2Norwegian University of Science and Technology, K. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Trondheim, Norway, 3Norwegian University of Science and Technology, HUNT Research Center, Department of Public Health and Nursing, Levanger, Norway, 4St. Olavs Hospital, Clinic of Thoracic and Occupational Medicine, Trondheim, Norway, 5University Hospital of North Norway, Division of Internal Medicine, Tromsø, Norway

Abstract Number: PB2184

Meeting: ISTH 2020 Congress

Theme: Venous Thromboembolism and Cardioembolism » Genetic Risk Factors of Thrombosis

Background: Family- and twin studies have indicated that the genetic risk of venous thromboembolism (VTE) may be different in men and women. The proportion of VTE-risk attributable to known prothrombotic genotypes has been scarcely investigated in men and women.

Aims: To estimate the population attributable fraction (PAF) of VTE for recognized prothrombotic genotypes in men and women using a population-based case-cohort.

Methods: Cases with incident VTE (n=1,493) and a randomly sampled subcohort (n=13,069) were derived from the Tromsø Study (1994-2012) and the Nord-Trøndelag Health Study (1995-2008). DNA-samples were genotyped for 17 single nucleotide polymorphism (SNPs) previously associated with VTE. Hetero- and homozygous carries were defined as risk allele carriers. PAFs with 95% bias-corrected confidence intervals (CI) (based on 10,000 bootstrap-samples) were estimated for SNPs significantly associated with VTE, and 5-SNP cumulative models were constructed for both sexes by adding SNPs one-by-one in order of the individual PAF values.

Results: In women, the five highest PAF-estimates were observed for F11 rs2036914 (PAF 17.6, 95% CI: 0.4-34.1), ABO (PAF 16.9, 95% CI: 5.8-28.0), F11 rs2289252 (PAF 15.1, 95% CI: 3.4-26.7), TC2N (PAF 11.6, 95% CI: -1.3-24.4) and FVL (PAF 8.7, 95% CI: 5.4-12.3). In men, the five highest PAF-estimates were observed for ABO (PAF 21.3, 95% CI: 9.6-32.5), F11 rs2036914 (PAF 12.2, 95% CI: -5.5-29.2), F11 rs2289252 (PAF 10.4, 95% CI: -2.0-22.4), FGG (PAF 7.8, 95% CI: -0.5-16.0) and FVL (PAF 7.5, 95% CI: 4.0-11.2). The cumulative PAF for the 5-SNP model was 52.4% for men, and 52.7% for women.

Conclusions: Our findings suggest that 52% of the VTEs can be attributed to known prothrombotic genotypes in both men and women, and four of the five SNPs in the cumulative PAF-model were similar between the sexes. Additionally, FGG contributed to the PAF model in men, while TC2N contributed to the PAF model in women.

To cite this abstract in AMA style:

Arnesen CAL, Evensen LH, Hveem K, Gabrielsen ME, Brumpton BM, Hansen J-, Brækkan SK. The Sex-Related Risk of Venous Thromboembolism Attributed to Recognized Prothrombotic Genotypes [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/the-sex-related-risk-of-venous-thromboembolism-attributed-to-recognized-prothrombotic-genotypes/. Accessed September 21, 2023.

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