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与风湿性二尖瓣疾病相关的重度肺动脉高压中内皮素-1基因和内皮素受体A基因多态性

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

作者信息

Mehra Pratishtha, Mehta Vimal, Yusuf Jamal, Sukhija Rishi, Aronow Wilbert S

机构信息

Department of Cardiology, G.B. Pant Institute of Postgraduate Medical Education and Research, India.

Division of Cardiology, University of Cincinnati College of Medicine, Cincinnati, OH, United States.

出版信息

Arch Med Sci. 2022 Jan 14;18(1):260-266. doi: 10.5114/aoms/144630. eCollection 2022.

DOI:10.5114/aoms/144630
PMID:35154546
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8826796/
Abstract

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.

摘要

引言

内皮素-1（ET-1）基因多态性与特发性肺动脉高压的发病机制有关。

方法

我们研究了123例风湿性二尖瓣疾病相关肺动脉高压（PH-MVD）患者和123例健康对照者的ET-1（Lys198Asn和3A/4A）及内皮素受体A（ET）基因（His323His）多态性。

结果

在PH-MVD组中，Lys198Asn突变纯合子Asn/Asn基因型和His323His多态性中的T/T基因型更为常见。Asn/Asn基因型的存在与风险增加显著相关（比值比3.9）。

结论

ET-1和ET基因多态性在PH-MVD组中普遍存在，提示它们可能易导致PH的发生。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43b2/8826796/eeaaaa099c7b/AMS-18-1-144630-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43b2/8826796/eeaaaa099c7b/AMS-18-1-144630-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43b2/8826796/eeaaaa099c7b/AMS-18-1-144630-g001.jpg

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