The CYP11B2 344 C>A polymorphism genetic test analyzes a specific variation in the CYP11B2 gene, which encodes aldosterone synthase, the key enzyme responsible for the final steps of aldosterone biosynthesis in the adrenal cortex. This test detects a cytosine (C) to adenine (A) substitution at position 344 in the promoter region of CYP11B2. This genetic variation influences gene transcription, aldosterone production, hypertension, and susceptibility to cardiovascular disease. As aldosterone plays a crucial role in sodium retention, potassium excretion, and blood pressure regulation through the renin-angiotensin-aldosterone system (RAAS), variations in CYP11B2 affect fluid balance, vascular function, and the risk of hypertensive complications.
Aldosterone is a mineralocorticoid hormone that regulates electrolyte homeostasis by promoting sodium reabsorption and potassium excretion in the kidneys. CYP11B2 344 C>A polymorphism has been associated with altered promoter activity, influencing transcriptional efficiency and aldosterone secretion. Studies suggest that individuals carrying the A allele exhibit increased aldosterone synthase expression, leading to elevated circulating aldosterone levels and enhanced sodium retention. This effect has been linked to a higher predisposition to essential hypertension, particularly in salt-sensitive individuals, where increased aldosterone activity contributes to sustained blood pressure elevation and vascular remodeling.
The presence of the A allele has been correlated with an increased risk of cardiovascular diseases, including left ventricular hypertrophy, arterial stiffness, and myocardial infarction. Chronic exposure to high aldosterone levels promotes endothelial dysfunction, oxidative stress, and fibrosis, leading to structural and functional changes in the cardiovascular system. The role of this polymorphism in hypertensive disorders has been extensively studied, with evidence suggesting that individuals with the AA genotype may have a greater response to aldosterone antagonists, indicating a potential pharmacogenetic influence on antihypertensive treatment efficacy.
Beyond hypertension, the CYP11B2 344 C>A polymorphism has been investigated in relation to metabolic disorders, including insulin resistance and metabolic syndrome. Elevated aldosterone levels have been associated with impaired glucose metabolism, increased adiposity, and a higher risk of developing type 2 diabetes. The impact of this polymorphism on renal function has also been explored, as excessive aldosterone activity contributes to glomerular hypertension, proteinuria, and an increased susceptibility to chronic kidney disease (CKD). Additionally, aldosterone-mediated inflammation and fibrosis have been implicated in conditions such as heart failure and atrial fibrillation, further underscoring the clinical significance of genetic variations in CYP11B2.
Genetic testing for the CYP11B2 344 C>A polymorphism provides insight into an individual’s genetic predisposition to hypertension, cardiovascular disease, and metabolic disorders.
The CYP11B2 344 C>A polymorphism genetic test is also included in:
