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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(A)) gene (His323His) polymorphisms in 123 subjects with pulmonary hypertension associated wi...

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Detalles Bibliográficos
Autores principales: Mehra, Pratishtha, Mehta, Vimal, Yusuf, Jamal, Sukhija, Rishi, Aronow, Wilbert S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8826796/
https://www.ncbi.nlm.nih.gov/pubmed/35154546
http://dx.doi.org/10.5114/aoms/144630
Descripción
Sumario: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.