rs4539, CYP11B2;GML

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.050 GeneticVariation BEFREE The rs4539 (AA), H1, H2, and H3 are genetic predictors for postoperative persistence of hypertension for Chinese patients treated by adrenalectomy with APA. 20708777 2010
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.050 GeneticVariation BEFREE To investigate the -344T/C, K173R and intron-2 conversion polymorphisms of CYP11B2 for an association with hypertension in highlanders accustomed to a high salt intake. 15643128 2005
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.050 GeneticVariation BEFREE The objective of this study was to investigate the association of polymorphisms in the aldosterone synthase gene CYP11B2 (-344T/C, Lys173/Arg, and an intronic conversion [IC]) with stage-2 hypertension in northern Han Chinese. 15479186 2004
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.050 GeneticVariation BEFREE To compare the frequency of three variants (-344C/T, intron 2 conversion, and the K173R polymorphism) of the aldosterone synthase gene in blacks and whites, and to determine any association of the variants with hypertension. 12544440 2003
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.050 GeneticVariation BEFREE Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin hypertension. 10720581 2000
Essential Hypertension
CUI: C0085580
Disease: Essential Hypertension
0.010 GeneticVariation BEFREE Single-locus analysis revealed significant association of CYP11B2 C-344T and Lys173Arg polymorphisms with EHT (p < 0.05). 27935319 2017
High altitude pulmonary edema
CUI: C0340100
Disease: High altitude pulmonary edema
0.010 GeneticVariation BEFREE The single-locus analysis showed that CYP11B2 C-344T and K173R and ACE A-240T polymorphisms were significantly associated with HAPE after Bonferroni correction (P<0.005). 17987391 2008
Adenoma
CUI: C0001430
Disease: Adenoma
0.010 GeneticVariation BEFREE Association of Lys173Arg polymorphism with CYP11B2 expression in normal adrenal glands and aldosterone-producing adenomas. 16118341 2005