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Analysis of endothelin-1 and endothelin-1 receptor A gene polymorphisms in patients with pulmonary arterial hypertension.
MedLine Citation:
PMID:  21773759     Owner:  NLM     Status:  Publisher    
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.
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
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-7-20
Journal Detail:
Title:  Internal and emergency medicine     Volume:  -     ISSN:  1970-9366     ISO Abbreviation:  -     Publication Date:  2011 Jul 
Date Detail:
Created Date:  2011-7-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101263418     Medline TA:  Intern Emerg Med     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Division of Cardiology, Monaldi Hospital, Second University of Naples, Via L. Bianchi, 80131, Naples, Italy,
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