Related Experiment Video
Updated: Jun 27, 2026
07:00
A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Prevalence of prothrombotic polymorphisms in Greece
Argyri Gialeraki1, Marianna Politou, Loukianos Rallidis
1Haematology Laboratory, Attikon Hospital, School of Medicine, University of Athens, Athens, Greece. agialer@med.uoa.gr
Genetic Testing
|December 17, 2008
Summary
This study assessed genetic polymorphisms in Greek individuals related to thrombosis and cardiovascular health. Allele frequencies align with other Caucasian and East Mediterranean populations, providing a baseline for future research.
Area of Science:
- * Genetics and Molecular Biology
- * Cardiovascular Disease Research
- * Population Genetics
Background:
- * Genetic polymorphisms in hemostasis, fibrinolysis, platelet function, endothelial function, lipid metabolism, and blood pressure regulation are linked to venous thromboembolism and atherothrombosis.
- * The prevalence of these specific genetic variations has not been previously documented in the Greek population.
- * Understanding these genetic predispositions is crucial for assessing cardiovascular and thrombotic risks.
Purpose of the Study:
- * To determine the prevalence of key genetic polymorphisms in healthy individuals of Greek origin.
- * To establish a baseline frequency of these polymorphisms in Greece for comparison with other populations.
- * To provide foundational data for future studies on the association of these polymorphisms with clinical conditions.
Main Methods:
- * A cohort of 140 healthy Greek individuals was genotyped.
- * A multiplex PCR and reverse hybridization technique was employed to simultaneously detect multiple polymorphisms.
- * Tested polymorphisms included Factor V (FV) 1691G/A and 4070G/A, FII 20210G/A, FXIII exon 2G/T, FGB -455G/A, PAI-1 -675 4G/5G, HPA1 a/b, ApoB 10708G/A, ApoE (E2, E3, E4), ACE D/I, and MTHFR 677C/T and 1298A/C.
Main Results:
- * Observed allele frequencies for the tested polymorphisms were consistent with those reported in other Caucasian populations.
- * The genetic profiles were nearly identical to those found in East Mediterranean populations.
- * This study provides the first comprehensive report on the prevalence of these specific polymorphisms in Greece.
Conclusions:
- * The genetic landscape of these thrombotic and cardiovascular risk-associated polymorphisms in Greece mirrors that of broader Caucasian and East Mediterranean groups.
- * This data serves as a critical baseline for future research investigating the role of these genetic factors in Greek patients.
- * The findings can inform the development of guidelines for genetic testing in various disease settings within the Greek population.
Related Concept Videos
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
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...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
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...
01:27Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:27Pharmacogenetics of Drug Metabolism: Overview
Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
01:30Anticoagulant 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...