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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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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
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author Mehra, Pratishtha
Mehta, Vimal
Yusuf, Jamal
Sukhija, Rishi
Aronow, Wilbert S.
author_facet Mehra, Pratishtha
Mehta, Vimal
Yusuf, Jamal
Sukhija, Rishi
Aronow, Wilbert S.
author_sort Mehra, Pratishtha
collection PubMed
description 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.
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spelling pubmed-88267962022-02-11 Endothelin-1 gene and endothelin receptor A gene polymorphisms in severe pulmonary hypertension associated with rheumatic mitral valve disease Mehra, Pratishtha Mehta, Vimal Yusuf, Jamal Sukhija, Rishi Aronow, Wilbert S. Arch Med Sci Research Letter 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. Termedia Publishing House 2022-01-14 /pmc/articles/PMC8826796/ /pubmed/35154546 http://dx.doi.org/10.5114/aoms/144630 Text en Copyright: © 2022 Termedia & Banach https://creativecommons.org/licenses/by-nc-sa/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
spellingShingle Research Letter
Mehra, Pratishtha
Mehta, Vimal
Yusuf, Jamal
Sukhija, Rishi
Aronow, Wilbert S.
Endothelin-1 gene and endothelin receptor A gene polymorphisms in severe pulmonary hypertension associated with rheumatic mitral valve disease
title Endothelin-1 gene and endothelin receptor A gene polymorphisms in severe pulmonary hypertension associated with rheumatic mitral valve disease
title_full Endothelin-1 gene and endothelin receptor A gene polymorphisms in severe pulmonary hypertension associated with rheumatic mitral valve disease
title_fullStr Endothelin-1 gene and endothelin receptor A gene polymorphisms in severe pulmonary hypertension associated with rheumatic mitral valve disease
title_full_unstemmed Endothelin-1 gene and endothelin receptor A gene polymorphisms in severe pulmonary hypertension associated with rheumatic mitral valve disease
title_short Endothelin-1 gene and endothelin receptor A gene polymorphisms in severe pulmonary hypertension associated with rheumatic mitral valve disease
title_sort endothelin-1 gene and endothelin receptor a gene polymorphisms in severe pulmonary hypertension associated with rheumatic mitral valve disease
topic Research Letter
url 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
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