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

Pratishtha Mehra; Vimal Mehta; Jamal Yusuf; Rishi Sukhija; Wilbert S Aronow

doi:10.5114/aoms/144630

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

Arch Med Sci. 2022 Jan 14;18(1):260-266. doi: 10.5114/aoms/144630. eCollection 2022.

Authors

Pratishtha Mehra¹, Vimal Mehta¹, Jamal Yusuf¹, Rishi Sukhija², Wilbert S Aronow³

Affiliations

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

Introduction: Endothelin-1 (ET-1) gene polymorphisms are implicated in pathogenesis of idiopathic pulmonary arterial hypertension.

Methods: We studied ET-1 (Lys198Asn and 3A/4A) and endothelin receptor A (ET_A) gene (His323His) polymorphisms in 123 subjects with pulmonary hypertension associated with rheumatic mitral valve disease (PH-MVD) and 123 healthy controls.

Results: The mutant homozygous Asn/Asn genotype in Lys198Asn and T/T genotype in His323His polymorphism was more prevalent in the PH-MVD group. Presence of Asn/Asn genotype was significantly associated with an increased risk (odds ratio 3.9).

Conclusions: ET-1 and ET_A gene polymorphisms are prevalent in the PH-MVD group suggesting that they may predispose to the development of PH.

Keywords: endothelin-1 gene polymorphism; mitral stenosis; pulmonary hypertension; rheumatic heart disease.