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Associations between Selected ADRB1 and CYP2D6 Gene Polymorphisms in Children with Ventricular and Supraventricular

Ewa Moric-Janiszewska1, Sławomir Smolik1, Lesław Szydłowski2

  • 1Department of Biochemistry, Faculty of Pharmaceutical Sciences in Sosnowiec, Medical University of Silesia in Katowice, Jedności 8B, 41-200 Sosnowiec, Poland.

Medicina (Kaunas, Lithuania)
|December 23, 2023
PubMed

Insights

Genetic variations in ADRB1 and CYP2D6 influence tachycardia treatment. The Arg389Gly polymorphism is more common in arrhythmia patients, especially girls with SVT. CYP2D6*4 allele carriers are prevalent, suggesting personalized beta-blocker therapy.

Area of Science:

  • Pharmacogenomics
  • Cardiovascular Genetics
  • Molecular Biology

Background:

  • Tachycardia is a common cardiovascular disease treated with beta-1 adrenergic receptor (ADRB1) blockers.
  • Genetic polymorphisms in ADRB1, specifically Ser49Gly and Arg389Gly, affect treatment efficacy.
  • CYP2D6 is a key enzyme in metabolizing many drugs, including antiarrhythmics.

Purpose of the Study:

  • To investigate the prevalence of ADRB1 and CYP2D6 gene polymorphisms in patients with tachycardia.
  • To determine the association of these polymorphisms with different types of arrhythmias.
  • To inform potential optimization of beta-blocker therapy based on genetic profiles.

Main Methods:

  • DNA was extracted from whole blood samples of tachycardia patients and controls.
  • High-resolution melting (HRM) polymerase chain reaction (PCR) was used to detect ADRB1 and CYP2D6 polymorphisms.
  • Melt profile data analysis identified heterozygotes and homozygotes for the examined alleles.

Main Results:

  • The Arg389Gly polymorphism frequency significantly differed between control and arrhythmia groups, and between SVT and VT patients.
  • Arg389Gly was more prevalent in girls with SVT compared to girls with VT.
  • The CYP2D6*4 allele was frequently observed in both patient and control groups, indicating a high carrier rate.

Conclusions:

  • The Arg389Gly polymorphism is a significant genetic marker associated with tachycardia and its subtypes.
  • The high prevalence of CYP2D6*4 allele carriers necessitates consideration for personalized beta-1 blocker therapy.
  • Genetic screening for ADRB1 and CYP2D6 polymorphisms may aid in optimizing antiarrhythmic drug treatment.

Keywords:
genetic polymorphismpharmacogeneticsβ-blockers

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