The AGTR1 1166 A>C polymorphism genetic test analyzes a specific variation in the AGTR1 gene, which encodes the angiotensin II type 1 receptor (AT1R), a key component of the renin-angiotensin system (RAS) responsible for regulating blood pressure, vascular tone, and sodium homeostasis. This test detects an adenine (A) to cytosine (C) substitution at nucleotide position 1166, a genetic variation associated with altered receptor function, increased sensitivity to angiotensin II, and a heightened risk of hypertension and cardiovascular disease as AT1R mediates the vasoconstrictive, pro-inflammatory, and hypertrophic effects of angiotensin II, variations in AGTR1 influence vascular remodeling, arterial stiffness, and susceptibility to hypertensive complications.
Angiotensin II is a potent vasoconstrictor that binds to AT1R, triggering a cascade of intracellular signaling events that increase blood pressure, sodium retention, and vascular hypertrophy. The AGTR1 1166 A>C polymorphism has been associated with differential receptor expression and function, with studies suggesting that individuals carrying the C allele may have increased receptor density or sensitivity, resulting in exaggerated angiotensin II-mediated effects. This genetic variation has been linked to higher baseline blood pressure levels, an increased risk of essential hypertension, and an enhanced response to environmental risk factors such as high salt intake and stress.
The presence of the C allele has been correlated with an elevated risk of cardiovascular disease, including coronary artery disease, left ventricular hypertrophy, myocardial infarction, and stroke. Chronic activation of AT1R in individuals carrying the risk allele promotes endothelial dysfunction, arterial stiffness, and pro-inflammatory signaling, contributing to atherosclerosis and cardiovascular remodeling. The interaction of this polymorphism with other genetic variants within the RAS, such as AGT 704 T>C and ACE I/D polymorphisms, further influences cardiovascular risk and blood pressure regulation.
Variability in AGTR1 function has also been associated with differences in response to antihypertensive therapies, particularly angiotensin receptor blockers (ARBs) and angiotensin-converting enzyme (ACE) inhibitors. Individuals carrying the C allele may exhibit an enhanced response to ARBs, suggesting that genetic testing may provide insights into personalized treatment strategies for managing hypertension and cardiovascular disease. The impact of this polymorphism extends beyond blood pressure regulation, with studies indicating potential associations with insulin resistance, metabolic syndrome, and chronic kidney disease, where angiotensin II plays a role in renal function and glucose homeostasis.
Genetic testing for the AGTR1 1166 A>C [rs5186] polymorphism provides insight into an individual’s genetic predisposition to hypertension and cardiovascular disorders.
The AGTR1 1166 A>C polymorphism genetic test is also included in:
