Endothelin-1 Gene and Endothelin Receptor a Gene Polymorphisms in Severe Pulmonary Hypertension Associated With Rheumatic Mitral Valve Disease
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) 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 gene polymorphisms are prevalent in the PH-MVD group suggesting that they may predispose to the development of PH.
Mehra, P., Mehta, V., Yusuf, J., Sukhija, R., & Aronow, W. S. (2022). Endothelin-1 Gene and Endothelin Receptor a Gene Polymorphisms in Severe Pulmonary Hypertension Associated With Rheumatic Mitral Valve Disease. https://doi.org/10.5114/aoms/144630