NYMC Faculty Publications

Endothelin-1 Gene and Endothelin Receptor a Gene Polymorphisms in Severe Pulmonary Hypertension Associated With Rheumatic Mitral Valve Disease

Author Type(s)

Faculty

Journal Title

Archives of Medical Science

First Page

260

Last Page

266

Document Type

Article

Publication Date

1-1-2022

Department

Medicine

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.

Share

COinS