Annotation Detail

Information
Associated Genes
REN
Associated Variants
CYP11B2 c.-344T>C
CYP11B2 c.-344T>C
Associated Disease
High-renin essential hypertension
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
0.000271441872080303
Year of publication
2001
Drugs