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

Iolanda Muntean 1 , Carmen Şuteu 1 , Rodica Togănel 1 ,  and Claudia Bănescu 2
  • 1 University of Medicine and Pharmacy Tîrgu Mureș, Institute of Cardiovascular Disease and Transplantation, Clinic of Pediatric Cardiology, Tîrgu Mureș, Romania
  • 2 University of Medicine and Pharmacy Tîrgu Mureș, Emergency County Hospital, Genetic Department, Tîrgu Mureș, Romania


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.

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