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

Abstract

Introduction Endothelin-1 (ET-1) gene polymorphisms are implicated in pathogenesis of idiopathic pulmonary arterial hypertension Material and methods We studied ET-1 (Lys198Asn and 3A/4A) and endothelin receptor A (ETA) 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 PH-MVD group. Presence of Asn/Asn genotype was significantly associated with increased risk (odds ratio 3.9). Conclusions ET-1 and ET A gene polymorphisms are prevalent in PH-MVD group suggesting that they may predispose to the development of PH.

Keywords

• pulmonary hypertension
• mitral stenosis
• rheumatic heart disease
• endothelin-1 gene polymorphism