Multiple sclerosis and genetic polymorphisms in fibrinogen-mediated hemostatic pathways: a case-control study.
Gianmarco Abbadessa1, Giuseppina Miele2, Andrea Di Pietro2
1Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy. gianmarcoabbadessa@live.com.
Summary
Multiple sclerosis patients show a higher prevalence of pro-hemostatic genetic variants compared to healthy individuals. An increased number of these unfavorable alleles may elevate the risk of developing multiple sclerosis (MS).
Area of Science:
- Neuroimmunology
- Genetics
- Hematology
Background:
- Blood coagulation factors may influence central nervous system (CNS) immunity, potentially driving neuroinflammation and demyelination.
- Specific single-nucleotide polymorphisms (SNPs) in hemostatic pathways are investigated for their role in multiple sclerosis (MS) pathogenesis.
Purpose of the Study:
- To determine if specific SNPs involved in fibrinogen-mediated hemostasis are more common in MS patients than in healthy controls.
- To assess the cumulative effect of these genetic variants on MS susceptibility.
Main Methods:
- A case-control study involving 119 MS patients and 68 healthy controls.
- Calculation of a cumulative genetic risk score (CGRS) based on five selected hemostatic risk alleles.
- Application of logistic regression models to analyze the association between CGRS and MS susceptibility.
Main Results:
- The Beta-Fibrinogen (FGB) 455 G/A and Factor V H1299R variants showed potential associations with MS status.
- A cumulative association was observed between the five investigated SNPs and the disease.
Conclusions:
- MS patients exhibited a higher burden of pro-hemostatic genetic variants compared to controls.
- An increased number of unfavorable alleles correlated with a greater likelihood of MS.
- Further validation in larger, population-based cohorts is recommended.
More Related Videos
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
14.7K
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...
GWAS does not require the identification of the target gene involved in...
14.7K
01:30Anticoagulant Drugs: Low-Molecular-Weight Heparins
1.1K
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...
1.1K
01:24Disorders of Hemostasis
1.4K
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.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
1.4K
01:05Single Nucleotide Polymorphisms-SNPs
16.8K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
16.8K
01:20Extrinsic and Intrinsic Pathways of Hemostasis
10.1K
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...
10.1K