Related Experiment Video

Updated: Jun 3, 2025

Author Spotlight: Advancing Cancer Associated Thrombosis Research in Rodent Models
04:40

Author Spotlight: Advancing Cancer Associated Thrombosis Research in Rodent Models

Published on: January 5, 2024

2.1K

[Advances in the genetics of venous thromboembolic disease]

Y Q Xia1, L Tang1, Y Hu1

  • 1Institute of Hematology, Tongji Medical College Affiliated Union Hospital, Huazhong University of Science and Technology, Wuhan 430022, China.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
|January 7, 2025
PubMed

Insights

Genetic factors significantly contribute to venous thromboembolism (VTE), a vascular condition manifesting as deep vein thrombosis (DVT) or pulmonary embolism (PE). This review explores key genetic variations impacting VTE risk.

Area of Science:

  • Genetics
  • Vascular Medicine
  • Thrombosis Research

Background:

  • Venous thromboembolism (VTE), encompassing deep vein thrombosis (DVT) and pulmonary embolism (PE), is a major vascular disease.
  • VTE arises from complex interactions between genetic and acquired risk factors, with heritability estimated at 40%-60%.
  • Advances in sequencing technology have accelerated the identification of genetic variations linked to VTE.

Purpose of the Study:

  • To review current research on key genetic variations associated with VTE.
  • To highlight updated mutations in genes regulating coagulation, anticoagulation, and fibrinolysis.
  • To discuss the functional mechanisms and future prospects of genetic research in VTE.

Main Methods:

  • Literature review of studies on genetic variations and VTE.
  • Analysis of research on mutations in coagulation, anticoagulation, and fibrinolysis systems.
  • Synthesis of findings on genetic heritability and risk factors for VTE.

Main Results:

  • Genetic variations play a substantial role in VTE development.
  • Numerous gene mutations affecting hemostasis pathways are linked to increased VTE risk.
  • Ongoing research continuously updates the understanding of genetic influences on VTE.

Conclusions:

  • Genetic factors are crucial in the multifactorial etiology of VTE.
  • Continued investigation into genetic variations and their mechanisms is essential for VTE risk assessment and management.
  • Future research holds promise for personalized VTE prevention strategies based on genetic profiles.

More Related Videos

Mouse Complete Stasis Model of Inferior Vena Cava Thrombosis04:34

Mouse Complete Stasis Model of Inferior Vena Cava Thrombosis

Published on: June 15, 2011

18.2K
Deep Vein Thrombosis Induced by Stasis in Mice Monitored by High Frequency Ultrasonography06:44

Deep Vein Thrombosis Induced by Stasis in Mice Monitored by High Frequency Ultrasonography

Published on: April 13, 2018

9.9K

Related Concept Videos

Anticoagulant Drugs: Low-Molecular-Weight Heparins01:30

Anticoagulant 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...
607
Venous Return01:04

Venous Return

The circulatory system plays a crucial role in ensuring the optimal functioning of the human body. One of its critical components is venous return - the process that completes the blood circulation cycle. This article will delve into the concept of venous return, how it works, and its significance to our health.
What is Venous Return?
Venous return refers to the rate at which blood flows back to the heart from the body's peripheral veins. It's an integral part of the circulatory system...
2.9K
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
53.3K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
12.4K
Disorders of Hemostasis01:24

Disorders of Hemostasis

Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
696
Regulation of Angiogenesis and Blood Supply01:24

Regulation of Angiogenesis and Blood Supply

Rapidly dividing tumors, embryos, and wounded tissues require more oxygen than usual, lowering the oxygen concentration in the blood. At low oxygen or hypoxic conditions, an oxygen-sensitive transcription factor called the hypoxia-inducible factor 1 or HIF1 is activated. HIF1 is a dimeric protein of alpha (ɑ) and beta (β) subunits.  Under optimal oxygen conditions, HIF1β is present in the nucleus while HIF1ɑ remains in the cytosol. HIF1ɑ is hydroxylated by prolyl...
2.5K