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Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

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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...
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Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

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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...
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Updated: May 28, 2026

Coronary Progenitor Cells and Soluble Biomarkers in Cardiovascular Prognosis after Coronary Angioplasty
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Coronary Progenitor Cells and Soluble Biomarkers in Cardiovascular Prognosis after Coronary Angioplasty

Published on: January 28, 2020

ADAMTS13 Gene Polymorphisms and Coronary Artery Disease Risk, Long-Term Survival, and Risk Factor Profile.

Justyna Wrona1, Anna Balcerzyk-Matić1, Katarzyna Mizia-Stec2

  • 1Department of Biochemistry and Medical Genetics, Faculty of Health Sciences in Katowice, Medical University of Silesia, Medykow Street 18, 40-752 Katowice, Poland.

Genes
|May 27, 2026
PubMed
Summary

Genetic variations in ADAMTS13 (a gene impacting blood clotting) do not influence coronary artery disease (CAD) risk or survival. However, these polymorphisms are linked to higher HDL cholesterol and altered lipid profiles, warranting further research into underlying mechanisms.

Keywords:
ADAMTS13coronary artery diseaselong-term survivalpolymorphisms

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Last Updated: May 28, 2026

Coronary Progenitor Cells and Soluble Biomarkers in Cardiovascular Prognosis after Coronary Angioplasty
10:03

Coronary Progenitor Cells and Soluble Biomarkers in Cardiovascular Prognosis after Coronary Angioplasty

Published on: January 28, 2020

Area of Science:

  • Cardiovascular Genetics
  • Thrombosis and Hemostasis
  • Molecular Biology

Background:

  • ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motif, member 13) cleaves von Willebrand factor, regulating platelet aggregation and thrombogenesis.
  • Low ADAMTS13 levels are potentially linked to increased cardiovascular event risk.
  • Polymorphisms in the ADAMTS13 gene may influence its activity and impact cardiovascular health.

Purpose of the Study:

  • To investigate the association between ADAMTS13 gene polymorphisms and the risk of coronary artery disease (CAD).
  • To evaluate the impact of these polymorphisms on patient survival following CAD diagnosis.
  • To explore potential correlations between ADAMTS13 variants, lipid profiles, and gene expression.

Main Methods:

  • Genotyping of ADAMTS13 polymorphisms (rs2301612, rs2073932, rs2285489) using TaqMan PCR.
  • Study cohort comprised 259 CAD patients and 238 control blood donors.
  • In silico analysis was employed to assess the influence of polymorphisms on gene expression.

Main Results:

  • No significant association was found between ADAMTS13 polymorphisms and CAD risk or long-term patient survival (5- and 10-year follow-up).
  • Carriers of specific alleles (G for rs2301612/rs2073932, T for rs2285489) exhibited higher HDL cholesterol levels.
  • Polymorphisms rs2285489 and rs2301612 were associated with certain proatherogenic lipid indices, and in silico analysis suggested effects on gene expression in vascular tissues and blood.

Conclusions:

  • ADAMTS13 gene polymorphisms may influence gene expression in specific tissues, but not sufficiently to impact CAD onset or survival.
  • A notable association exists between analyzed ADAMTS13 polymorphisms and HDL levels or specific proatherogenic lipid indices.
  • The precise mechanisms underlying the observed associations with lipid profiles require further investigation.