CYP11B2, also known as aldosterone synthase, is a key enzyme in aldosterone synthesis. Aldosterone is crucial in the regulation of blood pressure and fluid balance, and CYP11B2 is involved in the renin-angiotensin-aldosterone system [1,3,4,8,9]. Dysregulation of CYP11B2 can lead to various cardiovascular and metabolic disorders [1,5,8,9]. Genetic models are valuable for studying CYP11B2's role in these processes.

In aldosterone-producing adrenocortical adenoma (APA), somatic mutations in genes affecting the calcium signaling pathway can impact CYP11B2 expression and aldosterone production. For example, gain-of-function mutations in KCNJ5 and CACNA1D, and loss-of-function mutations in ATP1A1 and ATP2B3 have been identified [3]. The-344T>C polymorphism in the CYP11B2 gene is associated with an increased susceptibility risk of atrial fibrillation among hypertension populations [2]. Also, in the Chinese population, especially the Han Chinese, the-344T/C polymorphism in the CYP11B2 gene is significantly associated with hypertension [7]. Moreover, in eclampsia, CYP11B2 gene polymorphisms are significantly correlated with the development and progression of the disease [6]. DNA methylation negatively controls CYP11B2 expression, and factors like angiotensin II, potassium, and salt intake can dynamically change its methylation status and expression [1,8].

In conclusion, CYP11B2 is essential for aldosterone synthesis and is involved in regulating blood pressure and fluid balance. Studies using genetic models, especially those exploring gene polymorphisms and DNA methylation, have revealed its significant role in diseases such as APA, atrial fibrillation, hypertension, and eclampsia. Understanding CYP11B2 can provide insights into the pathogenesis of these diseases and potentially lead to new treatment strategies.