<abstract xmlns="http://www.w3.org/1999/xhtml">Pulmonary arterial hypertension (PAH) is a progressive disease with a complex pathogenesis. The polymorphism of the gene of multidrug resistance-1 (MDR1) has been associated with many diseases including PAH.<bold>Objective</bold>. In this study we aimed to investigate the relevance of the MDR1 polymorphism to pediatric PAH clinical course.<bold>Methods</bold>. A total of 40 pediatric patients with PAH (secondary to congenital heart defects or idiopathic) and 40 control subjects were enrolled. Patients with PAH were divided into 2 groups, according to their evolution: 28 patients who remained clinically stable at 12-months (non-worsening group) and 12 patients who presented clinical worsening at 12-months (worsening group). Genomic DNA was genotyped for MDR1 gene polymorphisms as follows: C1236T, G2677T and C3435T.<bold>Results</bold>. There were no significant differences between PAH children groups (clinical worsening and non-worsening) nor between PAH children and controls in terms of frequency distribution of the three studied genotypes or alleles.<bold>Conclusions</bold>. The MDR1 polymorphism could not be correlated with the clinical evolution of pediatric PAH patients in our study.</abstract>

Pulmonary arterial hypertension (PAH) is a progressive disease with a complex pathogenesis. The polymorphism of the gene of multidrug resistance-1 (MDR1) has been associated with many diseases including PAH.Objective. In this study we aimed to investigate the relevance of the MDR1 polymorphism to pediatric PAH clinical course.Methods. A total of 40 pediatric patients with PAH (secondary to congenital heart defects or idiopathic) and 40 control subjects were enrolled. Patients with PAH were divided into 2 groups, according to their evolution: 28 patients who remained clinically stable at 12-months (non-worsening group) and 12 patients who presented clinical worsening at 12-months (worsening group). Genomic DNA was genotyped for MDR1 gene polymorphisms as follows: C1236T, G2677T and C3435T.Results. There were no significant differences between PAH children groups (clinical worsening and non-worsening) nor between PAH children and controls in terms of frequency distribution of the three studied genotypes or alleles.Conclusions. The MDR1 polymorphism could not be correlated with the clinical evolution of pediatric PAH patients in our study.

Association between MDR1 gene polymorphism and clinical course of pediatric pulmonary arterial hypertension

University of Medicine and Pharmacy Tîrgu Mureș

Institute of Cardiovascular Disease and Transplantation, Clinic of Pediatric Cardiology

Emergency County Hospital, Genetic Department

Revista Romana de Medicina de Laborator

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Pulmonary arterial hypertension (PAH) is a progressive disease with a complex pathogenesis. The polymorphism of the gene of multidrug resistance-1 (MDR1) has...

Association between MDR1 gene polymorphism and clinical course of pediatric pulmonary arterial hypertension

Published Online: Jul 31, 2018

Page range: 305 - 312

Received: May 06, 2018

Accepted: Jul 05, 2018

DOI: https://doi.org/10.2478/rrlm-2018-0025

Keywords
MDR1 gene polymorphism, pulmonary arterial hypertension, congenital heart defects

© 2018 Iolanda Muntean et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Association between MDR1 gene polymorphism and clinical course of pediatric pulmonary arterial hypertension

Published Online: Jul 31, 2018

Page range: 305 - 312

Received: May 06, 2018

Accepted: Jul 05, 2018

DOI: https://doi.org/10.2478/rrlm-2018-0025

KeywordsMDR1 gene polymorphism, pulmonary arterial hypertension, congenital heart defects

© 2018 Iolanda Muntean et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Keywords
MDR1 gene polymorphism, pulmonary arterial hypertension, congenital heart defects