The AGT 521 C>T (Thr174Met) polymorphism genetic test analyzes a specific variation in the AGT gene, which encodes angiotensinogen, the precursor of angiotensin peptides that regulate blood pressure, fluid balance, and vascular function through the renin-angiotensin system (RAS). This test detects a cytosine (C) to thymine (T) substitution at nucleotide position 521, resulting in an amino acid change from threonine (Thr) to methionine (Met) at position 174. This genetic variation has been associated with altered angiotensinogen levels, modifications in blood pressure regulation, and increased susceptibility to hypertension and cardiovascular diseases.
Angiotensinogen is primarily produced in the liver and serves as the substrate for renin, which converts it into angiotensin I. Angiotensin I is cleaved by angiotensin-converting enzyme (ACE) into angiotensin II, a potent vasoconstrictor responsible for increasing blood pressure and stimulating sodium retention. The AGT 521 C>T polymorphism influences angiotensinogen expression, with studies suggesting that individuals carrying the T allele may have increased angiotensinogen production, leading to greater activation of the RAS and a higher risk of developing hypertension. The interaction between this polymorphism and other genetic variants, such as AGT 704 T>C (Met235Thr), further modulates blood pressure homeostasis and cardiovascular function.
The presence of the T allele has been linked to an increased risk of essential hypertension, particularly in populations with genetic predisposition to high blood pressure. Research has shown that individuals with the Thr174Met variant tend to have elevated baseline blood pressure levels and a greater likelihood of developing hypertension-related complications, including left ventricular hypertrophy and arterial stiffness. Variability in AGT function has also been associated with differences in response to antihypertensive treatments, including ACE inhibitors and angiotensin receptor blockers (ARBs). This suggests genetic testing may provide insights into personalized blood pressure management strategies.
Beyond hypertension, the AGT Thr174Met polymorphism has been implicated in an increased risk of cardiovascular diseases such as myocardial infarction, stroke, and heart failure. Chronic overactivation of the RAS due to elevated angiotensinogen levels contributes to endothelial dysfunction, oxidative stress, and vascular remodeling, promoting the progression of atherosclerosis and thrombosis. Studies have also explored the role of this polymorphism in kidney function, as excessive angiotensin II activity can lead to renal damage, glomerular hypertension, and an increased susceptibility to chronic kidney disease (CKD) and diabetic nephropathy.
Genetic testing for the AGT 521 C>T (Thr174Met) polymorphism provides insight into an individual’s genetic predisposition to hypertension and cardiovascular disorders.
The AGT 521 C>T (Thr174Met) polymorphism genetic test is also included in: