• Arch Med Sci · Jan 2022

    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, and Wilbert S Aronow.
    • Department of Cardiology, G.B. Pant Institute of Postgraduate Medical Education and Research, India.
    • Arch Med Sci. 2022 Jan 1; 18 (1): 260-266.

    IntroductionEndothelin-1 (ET-1) gene polymorphisms are implicated in pathogenesis of idiopathic pulmonary arterial hypertension.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 the PH-MVD group. Presence of Asn/Asn genotype was significantly associated with an increased risk (odds ratio 3.9).ConclusionsET-1 and ETA gene polymorphisms are prevalent in the PH-MVD group suggesting that they may predispose to the development of PH.Copyright: © 2022 Termedia & Banach.

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