Association of KCNJ5 gene rs3740835(C/A) and rs2604204(A/C) polymorphism with unilateral and bilateral primary aldosteronism.
- Author:
Nanfang LI
1
;
Chao SHI
;
Hongjian LI
;
Keming ZHOU
;
Feiya ZU
;
Delian ZHANG
;
Guijuan CHANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Female; G Protein-Coupled Inwardly-Rectifying Potassium Channels; genetics; Haplotypes; Humans; Hyperaldosteronism; genetics; Male; Middle Aged; Polymorphism, Genetic
- From: Chinese Journal of Medical Genetics 2014;31(2):233-237
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assess the association between polymorphisms of rs3740835(C/A) and rs2604204(A/C) in KCNJ5 gene with the susceptibility to unilateral and bilateral primary aldosteronism (PA).
METHODSA total of 1043 subjects were studied, which included 83 unilateral PA patients,142 bilateral PA patients and 818 essential hypertensive(EH) patients. The polymorphism of KCNJ5 gene at rs3740835(C/A) and rs2604204(A/C) position were analyzed with a TaqMan genotyping technique.
RESULTSFrequencies of A allele and AA+AC genotype at rs3740835(C/A) in unilateral PA group were significantly higher than EH group (P < 0.05). However, the above frequencies did not show a statistical significance between bilateral PA group and EH group (P > 0.05). No statistical difference was detected in the distribution of alleles or genotypes at rs2604204 (A/C) between unilateral PA and EH group or between bilateral PA and EH group. Haplotypic frequencies of C-A and A-A in unilateral PA group were significantly higher and lower than EH group, respectively. However, there was no statistical difference in the haplotype distribution between bilateral PA and EH groups.
CONCLUSIONRs3740835(C/A) polymorphism may be associated with unilateral PA but not with bilateral PA. rs2604204(A/C) polymorphism is not associated with either unilateral or bilateral PA. Haplotype C-A and A-A may respectively be susceptibility factor and protective factor for unilateral PA. No haplotype has been found to associate with bilateral PA.