O Polimorfismo Genético do Receptor Beta-Adrenérgico Tipo 1 Ser49Gly é Preditor de Morte em Pacientes Brasileiros com Insuficiência Cardíaca

Albuquerque, Felipe N.; Brandão, Andréa Araújo; Silva, Dayse A.; Rocha, Ricardo Mourilhe; Bittencourt, Marcelo Imbroinise; Sales, Ana Luiza Ferreira; Spineti, Pedro Pimenta de Mello; Duque, Gustavo Salgado; Azevedo, Lucas; Pozzan, Roberto; Tura, Bernardo Rangel; Albuquerque, Denílson Campos de

doi:10.36660/abc.20190187

Arquivos Brasileiros De Cardiologia

2020

DOI: 10.36660/abc.20190187

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O Polimorfismo Genético do Receptor Beta-Adrenérgico Tipo 1 Ser49Gly é Preditor de Morte em Pacientes Brasileiros com Insuficiência Cardíaca

Felipe N. Albuquerque

Andréa Araújo Brandão

Dayse A. Silva

et al.

Abstract: Fundamento: O papel do polimorfismo genético do receptor beta1-adrenérgico Ser49Gly (PG-Rβ1-Ser49Gly) como preditor de eventos na insuficiência cardíaca (IC) não está definido para a população brasileira. Objetivos: Avaliar a relação entre PG-Rβ1-Ser49Gly e desfechos clínicos em indivíduos com IC com fração de ejeção reduzida. Métodos: Análise secundária de prontuários de 178 pacientes e identificação das variantes do PG-Rβ1-Ser49Gly, classificadas como Ser-Ser, Ser-Gly e Gly-Gly. Avaliar sua relação com evolu… Show more

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

Moric-Janiszewska,

Smolik,

Szydłowski

et al. 2023

Medicina

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Background and Objectives: 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 ADRB1 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 ADRB1 and CYP2D6 gene polymorphisms. Materials and Methods: 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 ADRB1 and CYP2D6 gene polymorphisms were detected by high-resolution melting polymerase chain reaction (HRM-PCR) analysis. Results: 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. Conclusions: 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 CYP2D6 4 allele as either homozygous or heterozygous was observed in the study and control groups. The high prevalence of the CYP2D6*4 allele carriers in both groups prompts the optimization of beta-1 blocker therapy.

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

Moric-Janiszewska,

Smolik,

Szydłowski

et al. 2023

Medicina

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Minieditorial: O Polimorfismo Genético do Receptor Beta-Adrenérgico Tipo 1 Ser49Gly é Preditor de Morte em Pacientes Brasileiros com Insuficiência Cardíaca

Barretto¹

2020

Arquivos Brasileiros De Cardiologia

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O Polimorfismo Genético do Receptor Beta-Adrenérgico Tipo 1 Ser49Gly é Preditor de Morte em Pacientes Brasileiros com Insuficiência Cardíaca

Cited by 2 publications

References 25 publications

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

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

Minieditorial: O Polimorfismo Genético do Receptor Beta-Adrenérgico Tipo 1 Ser49Gly é Preditor de Morte em Pacientes Brasileiros com Insuficiência Cardíaca

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