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Updated: Apr 24, 2026

Mouse Complete Stasis Model of Inferior Vena Cava Thrombosis
Published on: June 15, 2011
Genetic variations associated with recurrent venous thrombosis
Astrid van Hylckama Vlieg1, Linda E Flinterman2, Lance A Bare2
1From the Department of Clinical Epidemiology (A.v.H.V., L.E.F., S.C.C., F.R.R.), Department of Thrombosis and Haemostasis (P.H.R., F.R.R.), and Einthoven Laboratory for Experimental Vascular Medicine (A.v.H.V., S.C.C., P.H.R., F.R.R.), Leiden University Medical Center, Leiden, the Netherlands; and Celera, Alameda, CA (L.A.B., A.R.A., C.H.T., J.J.D.). a.van_hylckama_vlieg@lumc.nl.
Multiple genetic markers (SNPs) can predict recurrent venous thrombosis. A genetic risk score combining 31 or 5 SNPs improves prediction accuracy, especially with clinical factors.
Area of Science:
- Genetics
- Thrombosis Research
- Medical Diagnostics
Background:
- Predicting recurrent venous thrombosis is challenging with individual genetic risk factors.
- This study investigated the utility of multiple genetic single nucleotide polymorphism (SNP) analysis for predicting recurrence.
Purpose of the Study:
- To assess the predictive value of multiple genetic single nucleotide polymorphism (SNP) analysis for recurrent venous thrombosis.
Main Methods:
- A cohort of 4100 patients with a first venous thrombosis was followed for recurrence.
- A genetic risk score (GRS) was calculated using 31 common thrombosis-associated SNPs and a simplified 5-SNP model.
- Recurrence risk was analyzed continuously and by stratifying individuals into low and high genetic risk score groups.
Main Results:
- Thirty-one common SNPs were associated with recurrence risk.
- A genetic risk score (GRS) using 31 SNPs showed varying recurrence risk based on allele count.
- A simplified 5-SNP GRS demonstrated similar predictive power to the 31-SNP GRS.
- The 6-year cumulative incidence of recurrence was significantly higher in individuals with more risk alleles.
Conclusions:
- Multiple genetic SNP analysis is a valuable tool for predicting recurrent thrombosis.
- Combining genetic risk scores with clinical risk factors further enhances predictive accuracy.
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Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

