Angiotensinogen variants and human hypertension

Abstract

The research on molecular genetics of human hypertension aims to identify the loci involved in the regulation of blood pressure, detect gene variants within the identified loci, associate them with intermediate phenotypes, and ultimately estimate their quantitative effects on blood pressure level and their interaction with main environmental factors. So far, the angiotensinogen (AGT) gene is one of the few candidate genes that has been investigated using these multiple statistical, clinical, and biochemical strategies. A highly polymorphic dinucleotide GT repeat (80% heterozygosity) has been used in several linkage studies. Other diallelic polymorphisms, located in the 5' regulatory region of the gene in intronic and exonic sequences, have been described, which were then used in association studies in different clinical settings. Positive associations between the M235T and the G-6A polymorphisms and plasma angiotensinogen levels indicates a pathway by which the AGT locus could be involved in essential hypertension.