Polimorfismos de un solo nucleótido en genes de endotelina-1 y su receptor A asociados a daño cardiovascular en hipertensión arterial esencial

Abstract

The endothelin system, for its vasoconstrictor action, is related to the developmentof essential hypertension (HTAe). The polymorphism analysis of their genes representsa new approach to the study of this disease. We propose to analyze the interaction betweenstages of essential hypertension (HTAe) and risk factors with polymorphisms 138ex1 ins/del Agene endothelin-1 (ET-1) and H323H receptor gene A ET-1 (ETRA).Patients and methods: We included 300 patients of both sexes, unrelated, who consecutivelyattended the clinic hypertension medical service. Each one underwent a complete physicalexamination, electrocardiogram, echocardiogram, and Rx thorax. The degree of severity ofhypertension was determined in stages. The determination of polymorphisms was performedby amplification followed by cutting by specific restriction enzyme from DNA obtained fromperipheral blood.Results: The 46% of patients had HTAe controlled, 17.6% had organ damage or cardiovascular,brain or kidney disease. It was observed that the 4A/4A carriers showed lower frequency ofcardiovascular disease, kidney and brain (P<.032; 95% CI: 11.1-21.4). For H323H polymorphism,the evaluation by images showed a higher frequency of the dilations of left auricular (P=.02)and auricular fibrillation (P=.03) between the T/T carrier, a higher frequency of cardiomegalywas detected in C/C patients (P=.04).Conclusion: The genotypes, 4A/4A of the ET-1 gene and the T/T from ETRA gene might beinvolved in worse outcome of cardiovascular damage. Their identification could help recognizesubgroups of the hypertensive patients with different risk