Annotation Detail
Information
- Associated Genes
- CYP11B2
- Associated Variants
-
CYP11B2 c.-344T>C
CYP11B2 c.-344T>C - Associated Disease
- Conn Syndrome
- Source Database
- DisGeNET
- Description
- The aim of our study was to identify genetic variants that influence the phenotype of patients with PA. We hypothesized that genetic variants potentially affecting aldosterone production (aldosterone synthase, CYP11B2), renal proximal tubule reabsorption (alpha-adducin), or the mechanisms of counterbalance leading to vasodilatation and sodium excretion (bradykinin B(2)-receptor, B(2)R) could influence the clinical and biochemical characteristics of patients with PA. We studied three polymorphisms of these genes (C-344T of CYP11B2, G460W of alpha-adducin, and C-58T of B(2)R) in 167 primary aldosteronism patients (56 with aldosterone-producing adenoma and 111 with idiopathic hyperaldosteronism).
- Pubmed
- 12107246
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00915307878060962
- Year of publication
- 2002
Drugs