Endothelin-1 gene and endothelin receptor A gene polymorphisms in severe pulmonary hypertension associated with rheumatic mitral valve disease

Author:

Mehra Pratishtha1ORCID,Mehta Vimal1ORCID,Yusuf Jamal1,Sukhija Rishi2,Aronow Wilbert3

Affiliation:

1. Department of Cardiology, G.B. Pant Institute of Postgraduate Medical Education and Research, India

2. Division of Cardiology, University of Cincinnati College of Medicine, Cincinnati, OH, United States

3. Department of Cardiology, Westchester Medical Center and New York Medical College, Valhalla, New York, United States

Abstract

IntroductionEndothelin-1 (ET-1) gene polymorphisms are implicated in pathogenesis of idiopathic pulmonary arterial hypertensionMaterial and methodsWe studied ET-1 (Lys198Asn and 3A/4A) and endothelin receptor A (ETA) gene (His323His) polymorphisms in 123 subjects with pulmonary hypertension associated with rheumatic mitral valve disease (PH-MVD) and 123 healthy controls.ResultsThe mutant homozygous Asn/Asn genotype in Lys198Asn and T/T genotype in His323His polymorphism was more prevalent in PH-MVD group. Presence of Asn/Asn genotype was significantly associated with increased risk (odds ratio 3.9).ConclusionsET-1 and ET<sub>A</sub> gene polymorphisms are prevalent in PH-MVD group suggesting that they may predispose to the development of PH.

Publisher

Termedia Sp. z.o.o.

Subject

General Medicine

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