Related Experiment Video
Updated: Apr 21, 2026
13:08
Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
Published on: September 9, 2012
19.6K
Common FXIII and fibrinogen polymorphisms in abdominal aortic aneurysms
Fraser L Macrae1, Hannah Lee Evans1, Katherine I Bridge2
1Theme Thrombosis, Division of Cardiovascular and Diabetes Research, Leeds institute for Cardiovascular and Metabolic Medicine, Multidisciplinary Cardiovascular Research Centre, University of Leeds, Leeds, United Kingdom.
Plos One
|November 11, 2014
Summary
Genetic variations in Factor XIII-B (FXIII-B) may increase the risk of developing abdominal aortic aneurysms (AAA). Specifically, the FXIII-B Arg95 variant is linked to a higher prevalence of AAA, suggesting FXIII
Area of Science:
- Vascular biology and genetics
- Cardiovascular disease research
- Thrombosis and hemostasis
Background:
- Abdominal aortic aneurysms (AAA) are characterized by aorta dilation, posing a rupture risk above 55mm.
- Intraluminal thrombus in AAA contributes to hypoxia, inflammation, and tissue degradation.
- Previous research indicates AAA patients form structurally altered clots resistant to fibrinolysis.
Purpose of the Study:
- Investigate genetic polymorphisms in Factor XIII (FXIII) and fibrinogen in AAA patients.
- Identify potential roles of genetic variations in FXIII and fibrinogen in AAA development.
- Determine the association between specific genetic variants and AAA risk.
Main Methods:
- Genotyping of 520 AAA patients and 449 controls (Western/European descent, ≥55 years).
- Analysis of five polymorphisms: FXIII-A Val34Leu, FXIII-B His95Arg, FXIII-B Splice Variant, Fib-A Thr312Ala, and Fib-B Arg448Lys using RT-PCR.
- Statistical analysis employing chi-squared test and CubeX, with linkage disequilibrium assessment.
Main Results:
- The FXIII-B Arg95 allele showed a significant association with AAA (RR=1.240, P=0.006).
- No association was found for FXIII-A Val34Leu, FXIII-B Splice Variant, Fib-A Thr312Ala, or Fib-B Arg448Lys with AAA.
- FXIII-B His95Arg and FXIII-B Splice variant were in negative linkage disequilibrium (D'=-0.609, p=0.011).
Conclusions:
- The FXIII-B Arg95 variant is associated with an increased risk of abdominal aortic aneurysms.
- These findings suggest a potential role for Factor XIII in the pathogenesis of AAA.
- Further research into FXIII's role in AAA development is warranted.
Related Concept Videos
01:30Anticoagulant Drugs: Low-Molecular-Weight Heparins
2.6K
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...
2.6K
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
142
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...
142
01:16Clot Retraction and Fibrinolysis
10.6K
After a fibrin clot is formed, the next step is clot retraction, a vital process facilitated by platelet contractile proteins, such as actin and myosin. These proteins pull the fibrin strands closer together and condense the clot. This action reduces the size of the clot, creating a smaller, denser structure that effectively seals off the damaged vessel. Clot retraction consolidates the clot and helps with wound healing by bringing the edges of the damaged blood vessel closer together.
10.6K
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
74
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
74
01:20Extrinsic and Intrinsic Pathways of Hemostasis
16.3K
Blood clotting or coagulation involves extrinsic and intrinsic pathways, which ultimately merge into the common pathway, forming a fibrin clot.
The Extrinsic Pathway
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which...
The Extrinsic Pathway
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which...
16.3K
01:30Aneurysm I: Introduction
642
An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
642