Related Experiment Video

Updated: Sep 11, 2025

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
13:08

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Published on: September 9, 2012

19.1K

Association of FV G1691A, FV H1299R, and FII G20210A variations with thrombosis and coronary artery disease (CAD): A

Özmen Sevda Ünallı1, Yeşim Özarda2, Aylin Köseler3

  • 1City Hospıtal, Central Laboratory, Department of Medical Biochemistry Bursa, Turkey.

Journal of Medical Biochemistry
|August 18, 2025
PubMed

Insights

Genetic variations in Factor V (FV) and Prothrombin (FII) do not appear to significantly impact coronary artery disease (CAD) risk in the Turkish population. Further studies are needed to clarify the role of these thrombosis-related gene variants in CAD development.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Thrombosis Research

Background:

  • Coronary artery disease (CAD) and thrombosis are multifactorial conditions with known genetic influences.
  • Specific gene variations, including Factor V (FV) G1691A (Leiden), FV H1299R, and Prothrombin (FII) G20210A, have been investigated for their association with CAD.
  • The precise contribution of these genetic variations to CAD development remains a subject of ongoing research and debate.

Purpose of the Study:

  • To investigate the prevalence and association of specific genetic variations (FV G1691A, FV H1299R, FII G20210A) with coronary artery disease (CAD) and thrombosis.
  • To determine if these genetic variations play a significant role in the development of CAD within the Turkish population.

Main Methods:

  • A case-control study design was employed, involving 406 healthy controls and 64 patients diagnosed with CAD.
  • Genotyping for the specified gene variations (FV G1691A, FV H1299R, FII G20210A) was conducted using a strip assay.
  • Allele and genotype frequencies were compared between the CAD patient group and the healthy control group using Fisher's exact test.

Main Results:

  • No statistically significant differences were found in the genotype frequencies of FV G1691A, FV H1299R, and FII G20210A between the CAD and control groups (p > 0.05).
  • Allele frequencies for these genetic variations also showed no significant differences between the patient and control cohorts (p > 0.05).

Conclusions:

  • The studied genetic variations (FV G1691A, FV H1299R, FII G20210A) do not appear to be significantly associated with the development of coronary artery disease (CAD) in the investigated Turkish population.
  • These findings align with existing literature that presents conflicting evidence regarding the role of these gene variations in CAD.
  • Further research incorporating larger sample sizes and diverse ethnic groups is recommended to definitively establish the role of these genetic variations in the pathogenesis of CAD.
Abstract

Keywords:
allele frequenciescoronary artery diseasefactor V genegene variationsprothrombin genethrombosis

More Related Videos

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.1K
Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

848

Related Concept Videos

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...
14.1K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
15.9K
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
57
Acute Coronary Syndrome III: Diagnostic Studies01:30

Acute Coronary Syndrome III: Diagnostic Studies

Diagnosing acute coronary syndrome or ACS begins with a thorough patient history. Notable symptoms include central, crushing chest pain radiating to the left arm, neck, jaw, or back, along with shortness of breath, sweating (diaphoresis), nausea, vomiting, dizziness, and palpitations.It is crucial to note any history of cardiac illnesses and assess risk factors, including age, gender, smoking, hypertension, diabetes, hyperlipidemia, and a sedentary lifestyle.During physical examination, vital...
23
Coronary Artery Disease III: Clinical Manifestations01:30

Coronary Artery Disease III: Clinical Manifestations

Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
32
Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies01:20

Venous 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...
34