Associations between Selected <i>ADRB1</i> and <i>CYP2D6</i> Gene Polymorphisms in Children with Ventricular and Supraventricular Arrhythmias
<i>Background and Objectives</i>: Tachycardia is a common cardiovascular disease. Drugs blocking β1-adrenergic receptors (ADRB1) are used in the therapy of arrhythmogenic heart diseases. Disease-related polymorphisms can be observed within the <i>ADRB1</i> gene. The two most...
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MDPI AG
2023-11-01
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| author | Ewa Moric-Janiszewska Sławomir Smolik Lesław Szydłowski Małgorzata Kapral |
| author_facet | Ewa Moric-Janiszewska Sławomir Smolik Lesław Szydłowski Małgorzata Kapral |
| author_sort | Ewa Moric-Janiszewska |
| collection | DOAJ |
| description | <i>Background and Objectives</i>: Tachycardia is a common cardiovascular disease. Drugs blocking β1-adrenergic receptors (ADRB1) are used in the therapy of arrhythmogenic heart diseases. Disease-related polymorphisms can be observed within the <i>ADRB1</i> gene. The two most important are Ser49Gly and Arg389Gly, and they influence the treatment efficacy. The family of the cytochrome P450 system consists of the isoenzyme CYP2D6 (Debrisoquine 4-hydroxylase), which is involved in phase I metabolism of almost 25% of clinically important drugs, including antiarrhythmic drugs. A study was conducted to detect the <i>ADRB1</i> and <i>CYP2D6</i> gene polymorphisms. <i>Materials and Methods</i>: The material for the test was whole blood from 30 patients with ventricular and supraventricular tachycardia and 20 controls. The samples were obtained from the Department of Pediatric Cardiology. The first to be made was the extraction of DNA using a GeneMATRIX Quick Blood DNA Purification Kit from EURx. The selected <i>ADRB1</i> and <i>CYP2D6</i> gene polymorphisms were detected by high-resolution melting polymerase chain reaction (HRM-PCR) analysis. <i>Results</i>: Based on the analysis of melt profile data for each PCR product, the identification of polymorphisms was carried out. Heterozygotes and homozygotes were found in the examined alleles. <i>Conclusions</i>: The frequency of the Arg389Gly polymorphism differs statistically significantly between the control group and patients with supraventricular and ventricular arrhythmias, as well as between these two groups of patients. Moreover, the Arg389Gly polymorphism was statistically more prevalent in the group of girls with SVT arrhythmia compared to girls with VT. A few carriers of homozygous and heterozygous systems of the S49G polymorphism were detected among patients with arrhythmias, as well as control group. The percentage of individuals carrying the <i>CYP2D6 4</i> allele as either homozygous or heterozygous was observed in the study and control groups. The high prevalence of the <i>CYP2D6*4</i> allele carriers in both groups prompts the optimization of beta-1 blocker therapy. |
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| issn | 1010-660X 1648-9144 |
| language | English |
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| spelling | doaj.art-fcaf58ee24c341e680e322986ae122162023-12-22T14:23:40ZengMDPI AGMedicina1010-660X1648-91442023-11-015912205710.3390/medicina59122057Associations between Selected <i>ADRB1</i> and <i>CYP2D6</i> Gene Polymorphisms in Children with Ventricular and Supraventricular ArrhythmiasEwa Moric-Janiszewska0Sławomir Smolik1Lesław Szydłowski2Małgorzata Kapral3Department of Biochemistry, Faculty of Pharmaceutical Sciences in Sosnowiec, Medical University of Silesia in Katowice, Jedności 8B, 41-200 Sosnowiec, PolandDepartment of Biochemistry, Faculty of Pharmaceutical Sciences in Sosnowiec, Medical University of Silesia in Katowice, Jedności 8B, 41-200 Sosnowiec, PolandDepartment of Pediatric Cardiology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, Medyków 16, 40-752 Katowice, PolandDepartment of Biochemistry, Faculty of Pharmaceutical Sciences in Sosnowiec, Medical University of Silesia in Katowice, Jedności 8B, 41-200 Sosnowiec, Poland<i>Background and Objectives</i>: Tachycardia is a common cardiovascular disease. Drugs blocking β1-adrenergic receptors (ADRB1) are used in the therapy of arrhythmogenic heart diseases. Disease-related polymorphisms can be observed within the <i>ADRB1</i> gene. The two most important are Ser49Gly and Arg389Gly, and they influence the treatment efficacy. The family of the cytochrome P450 system consists of the isoenzyme CYP2D6 (Debrisoquine 4-hydroxylase), which is involved in phase I metabolism of almost 25% of clinically important drugs, including antiarrhythmic drugs. A study was conducted to detect the <i>ADRB1</i> and <i>CYP2D6</i> gene polymorphisms. <i>Materials and Methods</i>: The material for the test was whole blood from 30 patients with ventricular and supraventricular tachycardia and 20 controls. The samples were obtained from the Department of Pediatric Cardiology. The first to be made was the extraction of DNA using a GeneMATRIX Quick Blood DNA Purification Kit from EURx. The selected <i>ADRB1</i> and <i>CYP2D6</i> gene polymorphisms were detected by high-resolution melting polymerase chain reaction (HRM-PCR) analysis. <i>Results</i>: Based on the analysis of melt profile data for each PCR product, the identification of polymorphisms was carried out. Heterozygotes and homozygotes were found in the examined alleles. <i>Conclusions</i>: The frequency of the Arg389Gly polymorphism differs statistically significantly between the control group and patients with supraventricular and ventricular arrhythmias, as well as between these two groups of patients. Moreover, the Arg389Gly polymorphism was statistically more prevalent in the group of girls with SVT arrhythmia compared to girls with VT. A few carriers of homozygous and heterozygous systems of the S49G polymorphism were detected among patients with arrhythmias, as well as control group. The percentage of individuals carrying the <i>CYP2D6 4</i> allele as either homozygous or heterozygous was observed in the study and control groups. The high prevalence of the <i>CYP2D6*4</i> allele carriers in both groups prompts the optimization of beta-1 blocker therapy.https://www.mdpi.com/1648-9144/59/12/2057genetic polymorphismβ-blockerspharmacogenetics |
| spellingShingle | Ewa Moric-Janiszewska Sławomir Smolik Lesław Szydłowski Małgorzata Kapral Associations between Selected <i>ADRB1</i> and <i>CYP2D6</i> Gene Polymorphisms in Children with Ventricular and Supraventricular Arrhythmias Medicina genetic polymorphism β-blockers pharmacogenetics |
| title | Associations between Selected <i>ADRB1</i> and <i>CYP2D6</i> Gene Polymorphisms in Children with Ventricular and Supraventricular Arrhythmias |
| title_full | Associations between Selected <i>ADRB1</i> and <i>CYP2D6</i> Gene Polymorphisms in Children with Ventricular and Supraventricular Arrhythmias |
| title_fullStr | Associations between Selected <i>ADRB1</i> and <i>CYP2D6</i> Gene Polymorphisms in Children with Ventricular and Supraventricular Arrhythmias |
| title_full_unstemmed | Associations between Selected <i>ADRB1</i> and <i>CYP2D6</i> Gene Polymorphisms in Children with Ventricular and Supraventricular Arrhythmias |
| title_short | Associations between Selected <i>ADRB1</i> and <i>CYP2D6</i> Gene Polymorphisms in Children with Ventricular and Supraventricular Arrhythmias |
| title_sort | associations between selected i adrb1 i and i cyp2d6 i gene polymorphisms in children with ventricular and supraventricular arrhythmias |
| topic | genetic polymorphism β-blockers pharmacogenetics |
| url | https://www.mdpi.com/1648-9144/59/12/2057 |
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