Related Experiment Video
Updated: Jun 21, 2026
06:44
Deep Vein Thrombosis Induced by Stasis in Mice Monitored by High Frequency Ultrasonography
Published on: April 13, 2018
Genetic variants associated with deep vein thrombosis: the F11 locus
Y Li1, I D Bezemer, C M Rowland
1Celera, Alameda, CA, USA.
Journal of Thrombosis and Haemostasis : JTH
|July 9, 2009
Summary
Two specific gene variants (SNPs) in the F11 gene independently increase the risk of deep vein thrombosis (DVT). This increased risk is partly explained by their association with Factor XI (FXI) levels.
Area of Science:
- Genetics
- Thrombosis Research
- Molecular Biology
Background:
- Deep vein thrombosis (DVT) risk is linked to genetic variations.
- A 4q35.2 locus contains genes like F11, CYP4V2, and KLKB1, associated with DVT.
- Identifying specific genetic risk factors is crucial for understanding DVT etiology.
Purpose of the Study:
- To pinpoint common single nucleotide polymorphisms (SNPs) within the 4q35.2 locus independently associated with DVT.
- To clarify the genetic underpinnings of DVT risk in this specific genomic region.
Main Methods:
- Utilized logistic regression to analyze the association between 103 SNPs and DVT.
- Included large cohorts: Leiden Thrombophilia Study (LETS) and MEGA study.
- Assessed 443 DVT cases and 453 controls (LETS); 2712 DVT cases and 4634 controls (MEGA).
Main Results:
- Identified two SNPs, rs2289252 and rs2036914 in the F11 gene, independently associated with DVT.
- rs2289252 showed an odds ratio of 1.49 (95% CI, 1.25-1.76) and rs2036914 showed 1.33 (95% CI, 1.11-1.59).
- Both SNPs were associated with Factor XI (FXI) levels, and their DVT association persisted, albeit attenuated, after adjusting for FXI.
Conclusions:
- Two F11 SNPs, rs2289252 and rs2036914, are independent genetic contributors to DVT risk.
- The association between these SNPs and DVT is, at least partially, mediated by FXI levels.
- These findings enhance the understanding of genetic factors influencing venous thromboembolism.
Related Concept Videos
01:30Venous Thrombosis I: Introduction
Venous thrombosis, the most common disorder of the veins, involves the formation of a thrombus or blood clot associated with vein inflammation. It can be classified as either superficial vein thrombosis or deep vein thrombosis.Superficial Vein Thrombosis: This involves the formation of a thrombus in a superficial vein, usually the greater or lesser saphenous vein. Though less severe than deep vein thrombosis (DVT), SVT can lead to complications if untreated.Deep Vein Thrombosis (DVT): This...
01:20Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies
The key difference between Superficial Vein Thrombosis (SVT) and Deep Vein Thrombosis (DVT) lies in their location and severity.Clinical ManifestationsSVT typically presents with localized pain, tenderness, and redness along the course of a superficial vein, often accompanied by a palpable, cord-like structure under the skin. This condition is usually less dangerous than DVT but can be uncomfortable and may lead to complications such as cellulitis or, rarely, a clot extension into the deep...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:27Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
01:29Venous Thrombosis III: Interprofessional Care
Venous thrombosis requires effective prevention and treatment strategies to improve patient outcomes and reduce potential complications.Prevention StrategiesHealthcare providers must prioritize preventing venous thromboembolism (VTE) for all adult patients upon admission. Interventions depend on bleeding and thrombosis risk, medical history, current medications, diagnoses, planned procedures, and patient preferences. Patients on bed rest should change positions every two hours and, if not...
01:30Anticoagulant Drugs: Low-Molecular-Weight Heparins
Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...