Article
Licensed
Unlicensed
Requires Authentication
Genetic Variations Observed in Arterial and Venous Thromboembolism – Relevance for Therapy, Risk Prevention and Prognosis
-
Dominic J. Harrington
Published/Copyright:
June 1, 2005
Abstract
We undertook genetic and biochemical assays in patients with arterial (n = 146) and venous (n = 199) thromboembolism and survivors of pulmonary embolism (n = 58) to study causation and gene-life style interactions. In the clinical material from North Western Russia, factor V Leiden was found to be a risk factor in venous thrombosis (OR = 3.6), while the methylenetetrahydrofolate reductase (MTHFR) C677T mutation was a significant variable in both venous (p = 0.03) and arterial thrombosis (p = 0.004). Homocysteine levels were determined (n = 84) and hyperhomocysteinemia correlated with the T allele of the MTHFR gene, and with smoking and coffee consumption. Vitamin supplementation reduced homocysteine levels dependent on MTHFR genotype (36% TT, 25% CT, 22% CC). In pulmonary embolism patients, frequency of the −455G/A β-fibrinogen dimorphism was studied. Carriers of this allele were significantly underrepresented (p < 0.02) among pulmonary embolism survivors (34.5%) compared to controls (56.7%). Additionally, −455AA homozygotes were found in 11.7% controls but only 1.7% of pulmonary embolism patients (p = 0.006). In venous and arterial thrombosis cases, MTHFR and homocysteine data led to effective dietary supplementation with a reduced risk of disease progression. Results from the pulmonary embolism study may indicate that screening tests for the −455G/A β-fibrinogen genetic variation could be of prognostic value, and may point the way for novel anticoagulation strategies.
:
Published Online: 2005-06-01
Published in Print: 2003-04-25
Copyright © 2003 by Walter de Gruyter GmbH & Co. KG
You are currently not able to access this content.
You are currently not able to access this content.
Articles in the same Issue
- First Santorini Conference: From Genetic Variations to Risk Prediction and Pharmacogenomics
- Pharmacogenetics and Pharmacogenomics in Drug Discovery and Development: An Overview
- Regulatory Gene Mutations Affecting Apolipoprotein Gene Expression: Functions and Regulatory Behavior of Known Genes May Guide Future Pharmacogenomic Approaches to Therapy
- The Proteome: Anno Domini 2002
- Cardiac Sodium Channel Diseases
- Haemophilia B: From Molecular Diagnosis to Gene Therapy
- The Use of Denaturing High-Performance Liquid Chromatography (DHPLC) for the Analysis of Genetic Variations: Impact for Diagnostics and Pharmacogenetics
- Molecular Diagnostics by Microelectronic Microchips
- Molecular Beacons as Diagnostic Tools: Technology and Applications
- Electrochemical DNA Sensor for Detection of Single Nucleotide Polymorphisms
- Comparison of Standard PCR and the LightCycler® Technique to Determine the Thrombophilic Mutations: An Efficiency and Cost Study
- Impact of Purified Water Quality on Molecular Biology Experiments
- Which Are the best Tools for Specific Clinical Application (Chips, Multiplex, Mass Spec Profile, etc.)?
- Genetic Variations Observed in Arterial and Venous Thromboembolism – Relevance for Therapy, Risk Prevention and Prognosis
- The TNF- α Gene NcoI Polymorphism at Position –308 of the Promoter Influences Insulin Resistance, and Increases Serum Triglycerides after Postprandial Lipaemia in Familiar Obesity
- The –308 G/A Tumor Necrosis Factor-α Gene Dimorphism: A Risk Factor for Unstable Angina
- The Apolipoprotein AV Gene and Diurnal Triglyceridaemia in Normolipidaemic Subjects
- Left Ventricular Size, Mass and Function in Relation to Angiotensin-Converting Enzyme Gene and Angiotensin-II Type 1 Receptor Gene Polymorphisms in Patients with Coronary Artery Disease
- Analysis of Multiple Single Nucleotide Polymorphisms of Candidate Genes Related to Coronary Heart Disease Susceptibility by Using Support Vector Machines
- PON1-192 Phenotype and Genotype Assessments in 918 Subjects of the Stanislas Cohort Study
- Lipoprotein Lipase Gene Polymorphisms in Croatian Patients with Coronary Artery Disease
- Homocysteine, Methylenetetrahydrofolate Reductase C677T Polymorphism and the B-Vitamins: A Facet of Nature-Nurture Interplay
- Which, and How Limited Number of Polymorphisms Should Be Selected per Disease, Risk Assessment, Health Profile or Biological System?
- Ethical Issues: Should We Give the Predictive Genetic Profile to the Citizens?
- Pharmacogenetics and Responders to a Therapy: Theoretical Background and Practical Problems
- Pharmacogenetics of Drug Metabolising Enzymes: Importance for Personalised Medicine
- Pharmacogenomics and Pharmacogenetics of Cholesterol-Lowering Therapy
- Pharmacogenomics of Drugs Affecting the Cardiovascular System
- Allele Frequencies for Glutathione S-Transferase and N-Acetyltransferase 2 Differ in African Population Groups and May Be Associated With Oesophageal Cancer or Tuberculosis Incidence
- CYP3A4*1B and NAT2*14 Alleles in a Native African Population
- Pharmacogenetics: From Bench to Bedside
- Meetings and Awards
Articles in the same Issue
- First Santorini Conference: From Genetic Variations to Risk Prediction and Pharmacogenomics
- Pharmacogenetics and Pharmacogenomics in Drug Discovery and Development: An Overview
- Regulatory Gene Mutations Affecting Apolipoprotein Gene Expression: Functions and Regulatory Behavior of Known Genes May Guide Future Pharmacogenomic Approaches to Therapy
- The Proteome: Anno Domini 2002
- Cardiac Sodium Channel Diseases
- Haemophilia B: From Molecular Diagnosis to Gene Therapy
- The Use of Denaturing High-Performance Liquid Chromatography (DHPLC) for the Analysis of Genetic Variations: Impact for Diagnostics and Pharmacogenetics
- Molecular Diagnostics by Microelectronic Microchips
- Molecular Beacons as Diagnostic Tools: Technology and Applications
- Electrochemical DNA Sensor for Detection of Single Nucleotide Polymorphisms
- Comparison of Standard PCR and the LightCycler® Technique to Determine the Thrombophilic Mutations: An Efficiency and Cost Study
- Impact of Purified Water Quality on Molecular Biology Experiments
- Which Are the best Tools for Specific Clinical Application (Chips, Multiplex, Mass Spec Profile, etc.)?
- Genetic Variations Observed in Arterial and Venous Thromboembolism – Relevance for Therapy, Risk Prevention and Prognosis
- The TNF- α Gene NcoI Polymorphism at Position –308 of the Promoter Influences Insulin Resistance, and Increases Serum Triglycerides after Postprandial Lipaemia in Familiar Obesity
- The –308 G/A Tumor Necrosis Factor-α Gene Dimorphism: A Risk Factor for Unstable Angina
- The Apolipoprotein AV Gene and Diurnal Triglyceridaemia in Normolipidaemic Subjects
- Left Ventricular Size, Mass and Function in Relation to Angiotensin-Converting Enzyme Gene and Angiotensin-II Type 1 Receptor Gene Polymorphisms in Patients with Coronary Artery Disease
- Analysis of Multiple Single Nucleotide Polymorphisms of Candidate Genes Related to Coronary Heart Disease Susceptibility by Using Support Vector Machines
- PON1-192 Phenotype and Genotype Assessments in 918 Subjects of the Stanislas Cohort Study
- Lipoprotein Lipase Gene Polymorphisms in Croatian Patients with Coronary Artery Disease
- Homocysteine, Methylenetetrahydrofolate Reductase C677T Polymorphism and the B-Vitamins: A Facet of Nature-Nurture Interplay
- Which, and How Limited Number of Polymorphisms Should Be Selected per Disease, Risk Assessment, Health Profile or Biological System?
- Ethical Issues: Should We Give the Predictive Genetic Profile to the Citizens?
- Pharmacogenetics and Responders to a Therapy: Theoretical Background and Practical Problems
- Pharmacogenetics of Drug Metabolising Enzymes: Importance for Personalised Medicine
- Pharmacogenomics and Pharmacogenetics of Cholesterol-Lowering Therapy
- Pharmacogenomics of Drugs Affecting the Cardiovascular System
- Allele Frequencies for Glutathione S-Transferase and N-Acetyltransferase 2 Differ in African Population Groups and May Be Associated With Oesophageal Cancer or Tuberculosis Incidence
- CYP3A4*1B and NAT2*14 Alleles in a Native African Population
- Pharmacogenetics: From Bench to Bedside
- Meetings and Awards
