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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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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...
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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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Updated: May 14, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

Familial Short QT Syndrome: Phenotypic Variability and Challenges in Risk Stratification.

Paula Bouzón1, Alberto Alen1, María Salgado1

  • 1Área del Corazón, Hospital Universitario Central Asturias, 33011 Oviedo, Spain.

Journal of Clinical Medicine
|May 13, 2026
PubMed
Summary
This summary is machine-generated.

Short QT syndrome (SQTS) is a rare inherited cardiac condition. This study highlights the broad spectrum of SQTS phenotypes and challenges in risk stratification, emphasizing the need for further research.

Keywords:
KCNJ2channelopathyinherited arrhythmiarisk stratificationshort QT syndromesudden cardiac death

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Published on: August 15, 2019

Area of Science:

  • Cardiology
  • Genetics
  • Electrophysiology

Background:

  • Short QT syndrome (SQTS) is a rare inherited cardiac channelopathy.
  • It carries a high risk of arrhythmias and sudden cardiac death (SCD).
  • Limited data exist on its natural history, genotype-phenotype correlations, and risk stratification.

Purpose of the Study:

  • To evaluate families with confirmed SQTS diagnosis.
  • To contribute real-world data on this rare condition.
  • To characterize phenotype and genotype and perform longitudinal follow-up.

Main Methods:

  • Retrospective review of families evaluated for suspected SQTS (2011-2025).
  • Diagnosis based on 2022 ESC guidelines (QTc ≤320 ms or ≤360 ms with supportive features).
  • Included clinical evaluation, genetic testing, phenotypic/genotypic characterization, and follow-up.

Main Results:

  • Two families met SQTS criteria; one was gene-elusive with SCD history and atrial fibrillation.
  • The second family had a pathogenic KCNJ2 variant, but only the proband met ECG criteria.
  • No patients received pharmacological therapy; no malignant arrhythmic events occurred during follow-up.

Conclusions:

  • These cases show the wide phenotypic spectrum of SQTS and difficulties in risk stratification.
  • Disease rarity, variable penetrance, and limited prospective data impede evidence-based management.
  • Systematic registries and longitudinal studies are crucial for refining risk prediction and treatment strategies.