The AGT 704 T>C (Met235Thr) polymorphism genetic test analyzes a specific variation in the AGT gene, which encodes angiotensinogen, a precursor protein of the renin-angiotensin system (RAS) that plays a central role in blood pressure regulation, fluid balance, and cardiovascular function. This test detects a thymine (T) to cytosine (C) substitution at nucleotide position 704, resulting in an amino acid change from methionine (Met) to threonine (Thr) at position 235. This genetic variation has been associated with increased angiotensinogen expression, higher circulating angiotensin II levels, and an elevated risk of essential hypertension, cardiovascular disease, and kidney dysfunction.
Angiotensinogen is synthesized primarily in the liver and serves as the substrate for renin, which cleaves it into angiotensin I. Angiotensin I is converted by angiotensin-converting enzyme (ACE) into angiotensin II, a potent vasoconstrictor that regulates blood pressure, sodium retention, and vascular remodeling. The AGT 704 T>C polymorphism influences angiotensinogen plasma levels, with the C allele being linked to increased gene transcription and higher angiotensinogen production. This leads to enhanced activation of the RAS, promoting vasoconstriction, sodium retention, and increased blood volume, which contribute to hypertension and related cardiovascular complications.
The presence of the C allele has been associated with an increased risk of essential hypertension, particularly in individuals with a family history of high blood pressure or those exposed to dietary and lifestyle risk factors. Studies have shown that individuals carrying the CC genotype exhibit higher baseline blood pressure levels and a greater likelihood of developing hypertension at an earlier age compared to those with the TT genotype. The impact of this polymorphism on blood pressure regulation has also been observed in response to antihypertensive therapy, with variations in AGT influencing the effectiveness of medications targeting the RAS, including ACE inhibitors and angiotensin receptor blockers (ARBs).
Beyond hypertension, the AGT Met235Thr polymorphism has been linked to an increased risk of cardiovascular diseases such as coronary artery disease, stroke, and left ventricular hypertrophy. Chronic activation of the RAS due to elevated angiotensinogen levels contributes to endothelial dysfunction, arterial stiffness, and atherosclerotic plaque formation. The role of this polymorphism in kidney disease has also been explored, as excessive angiotensin II activity can lead to glomerular hypertension, renal fibrosis, and an increased susceptibility to chronic kidney disease (CKD) and diabetic nephropathy.
Genetic testing for the AGT 704 T>C (Met235Thr) polymorphism provides insight into an individual’s genetic predisposition to hypertension and cardiovascular diseases. This variant's identification allows for assessing blood pressure regulation, RAS activation, and response to antihypertensive treatments.
The AGT 704 T>C (Met235Thr) polymorphism genetic test is also included in:
