Retrospect on Endothelin-1 gene (EDN1) polymorphisms in essential hypertension

  • Win Min Oo Department of Biochemistry, University of Medicine-Magway, Myanmar
  • Myat Mon Khine Department of Biochemistry, University of Medicine-Magway, Myanmar


Hypertension is a major health challenge to both public and clinical fields worldwide. The etiology of essential hypertension is complex, involving the interactions between several genes and environmental factors. In recent years, researchers have evaluated different single gene polymorphisms to determine whether genetic variations affect hypertensive risk or not. Among the several genetic variations, endothelin-1 gene polymorphism become a popular interest to determine hypertensive risk in different study groups. Despite normal endothelin-1 level in essential hypertension, EDN1 gene is overexpressed in hypertensive patients. In this review, an evaluation of scientific data that how EDN1 gene polymorphisms are implicated in hypertension has been carried out. Certain gene variants of endothelin-1 gene carry hypertensive risk in some studies, yet various effects and other interacting factors have been identified.  Adenine insertion/deletion polymorphism at 5’ untranslated region of EDN1 gene affects variations of blood pressure as the insertion variant overexpresses EDN1 by mRNA stability and is associated with high diastolic pressure. Yet, metabolic dysfunctions are absent in hypertensive patients carrying the insertion genotype. The Guanine-to-Thymine transversion at position 198 of EDN1 gene is another variation affecting hypertensive risk. The T allele is the predictor for high blood pressures – both systolic and diastolic. However, some factors such as obesity, fitness level and physical training interacts with the association. The evidence of other single nucleotide polymorphisms of EDN1 associating with hypertension is poor.


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How to Cite
Oo, W. and Khine, M. 2018. Retrospect on Endothelin-1 gene (EDN1) polymorphisms in essential hypertension. Journal of Biological Sciences and Medicine. 4, 2 (Jun. 2018).