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

Journal

ARCHIVES OF MEDICAL SCIENCE
Volume 18, Issue 1, Pages 260-266

Publisher

TERMEDIA PUBLISHING HOUSE LTD
DOI: 10.5114/aoms/144630

Keywords

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

Funding

  1. SERB, Department of Science and Technology, Government of India [EMR/2015/002205]

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This study found that ET-1 and ETA gene polymorphisms are more prevalent in patients with pulmonary hypertension associated with rheumatic mitral valve disease (PH-MVD), suggesting that these genes may predispose individuals to the development of PH.
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 (ETA) 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 ETA gene polymorphisms are prevalent in the PH-MVD group suggesting that they may predispose to the development of PH.

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