Analysis of endothelin-1 and endothelin-1 receptor A gene polymorphisms in patients with pulmonary arterial hypertension

Paolo Calabrò, Giuseppe Limongelli, Valeria Maddaloni, Carmine Dario Vizza, Michele D'Alto, Raffaella D'Alessandro, Roberto Poscia, Paola Argiento, Brunella Ziello, Roberto Badagliacca, Emanuele Romeo, Giuseppe Pacileo, Maria Giovanna Russo, Francesco Fedele, Raffaele Calabrò

Research output: Contribution to journalArticlepeer-review


This study analyses the frequency and the potential role of two polymorphisms, the +134del/insA, located in the gene encoding for Endothelin-1 (EDN1), and the His323His in the gene encoding for Endothelin receptor type A (EDNRA) in a cohort of 98 consecutive patients with pulmonary arterial hypertension from two different Cardiology Units (Mid-South of Italy), and in 100 healthy Caucasian subjects randomly recruited from the same area. Cardiac anatomy and function were analysed by non invasive diagnostic imaging techniques (Echocardiography standard m-mode, 2D, colour-Doppler) and by invasive studies (cardiac catheterization). Molecular screening of the region of interest was performed by automated sequencing. At univariate analysis, patients with the His323His TT genotype show a lower cardiac index (2 ± 0. 6 vs. 2. 3 ± 0. 6; p = 0. 05) and a higher indexed pulmonary vascular resistance (18. 8 ± 9. 6 vs. 14. 2 ± 6. 9; p = 0. 01) at cardiac catheterization. A logistic multivariate model shows idiopathic disease (p = 0. 01; OR = 3. 8; CI = 1. 3-11) and indexed pulmonary vascular resistances (p = 0. 01; OR = 1. 1; CI = 1-1. 2) as independent predictors of TT genotype. Our findings may suggest a potential link between specific genotypes in the EDNRA gene and susceptibility for PAH.

Original languageEnglish
Pages (from-to)425-430
Number of pages6
JournalInternal and Emergency Medicine
Issue number5
Publication statusPublished - Oct 2012


  • Endothelin 1
  • Endothelin receptors
  • Polymorphism
  • Pulmonary artery hypertension

ASJC Scopus subject areas

  • Emergency Medicine
  • Internal Medicine


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