Related Experiment Video
Updated: Jul 6, 2026
06:44
Deep Vein Thrombosis Induced by Stasis in Mice Monitored by High Frequency Ultrasonography
Published on: April 13, 2018
Gene variants associated with deep vein thrombosis
Irene D Bezemer1, Lance A Bare, Carine J M Doggen
1Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.
JAMA
|March 20, 2008
Summary
This study identified key single-nucleotide polymorphisms (SNPs) linked to deep vein thrombosis (DVT) risk. Genetic variations significantly influence an individual's likelihood of developing DVT.
Area of Science:
- Genetics
- Molecular Biology
- Epidemiology
Background:
- The genetic underpinnings of deep vein thrombosis (DVT) remain incompletely elucidated.
- Identifying genetic risk factors is crucial for understanding DVT etiology and prevention.
Purpose of the Study:
- To pinpoint specific single-nucleotide polymorphisms (SNPs) associated with an increased risk of developing DVT.
- To explore the genetic architecture contributing to thrombotic risk.
Main Methods:
- Utilized three large case-control studies (LETS, MEGA-1, MEGA-2) involving thousands of participants.
- Genotyped over 19,000 gene-centric SNPs and performed logistic regression analysis to estimate odds ratios.
- Applied false discovery rates to rigorously assess the statistical significance of identified SNPs.
Main Results:
- Identified three SNPs strongly associated with DVT: rs13146272 in CYP4V2, rs2227589 in SERPINC1, and rs1613662 in GP6.
- Observed increased DVT risk per risk allele for these SNPs, with odds ratios ranging from 1.15 to 1.29.
- Discovered additional SNPs near CYP4V2 associated with both DVT and coagulation factor XI levels.
Conclusions:
- Confirmed that common genetic variations play a significant role in determining an individual's susceptibility to DVT.
- Highlighted specific genes and SNPs that contribute to thrombotic risk, offering potential targets for further research.
- Demonstrated a link between genetic variations in the CYP4V2 region, DVT, and factor XI levels.
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...
01:26Varicose Veins I: Introduction
Varicose veins, or varicosities, are abnormally dilated and twisted superficial veins caused by venous valve incompetence. This condition commonly affects the lower extremities, especially the saphenous veins, due to the higher pressure from prolonged standing and walking. However, varicosities can also occur in other areas, such as the esophagus, vulva, spermatic cords, and anorectal region.Etiology and typesPrimary varicose veins, often idiopathic, are more common in women due to inherent...
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...
01:29Pharmacogenetic 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...