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 the study was to investigate allele and genotype frequencies of the -344C/T polymorphism, located in the promoter region of the aldosterone synthase gene, in 83 patients with idiopathic low renin hypertension characterized by an increased aldosterone to renin ratio, including both patients with low renin essential hypertension (n=53) and subjects with idiopathic hyperaldosteronism (n=30), compared with 78 patients with normal to high renin essential hypertension and 126 normotensive control subjects.
- Pubmed
- 11587161
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00915307878060962
- Year of publication
- 2001
Drugs