Association of KCNJ5 gene missense mutations with aldosterone-producing adenoma and primary hyperaldosteronism
10.3760/cma.j.issn.1000-6699.2013.10.010
- VernacularTitle:醛固酮瘤组织体细胞KCNJ5基因错义突变与原发性醛固酮增多症的相关性研究
- Author:
Dan SHAO
;
Nanfang LI
;
Yanrong HU
;
Hai YANG
;
Ling ZHOU
;
Na LIN
- Publication Type:Journal Article
- Keywords:
Primary hyperaldosteronism;
Aldosterone-producing adenoma;
KCNJ5 gene;
Missense mutation
- From:
Chinese Journal of Endocrinology and Metabolism
2013;29(10):862-866
- CountryChina
- Language:Chinese
-
Abstract:
Objective This study is about to detect the KCNJ5 gene variations in aldosterone-producing adenoma (APA) with primary hyperaldosteronism (PA),and to investigate the association of the KCNJ5 gene missense mutations with APA and PA.Methods A total of 46 APA tumors and their clinical characteristics were collected from Hypertension Center of the People's Hospital of Xinjiang Uygur Autonomous Region,and all the tumors were confirmed by pathology.All the samples of the coding region segments of KCNJ5 were detected by PCR and direct DNA sequencing to compare the different missense mutations in the tumor cells and peripheral blood cells and to analyze the association between the genotype and phenotype.Results Three missense mutations were found in 46 patients with APA:c.451G ＞ C/A (p.G151R) (5/46),c.503T ＞ G (p.L168R) (4/46),c.830T ＞ A (p.S209T) (12/46).S209T,as an unreported somatic mutation was observed.There were no missense mutations detected in the peripheral blood.Sex,age,systolic blood pressure,diastolic blood pressure,duration of hypertension,plasma potassium,urine potassium,aldosterone,plasma renin activity,aldosterone,and plasma renin activity ratio,as well as the rate of positive family history were compared between the mutants and wild-types.Systolic blood pressure and plasma potassium level among G151 R,L168R,and S209T had statistical differences.Systolic blood pressure in G151R was significantly higher than the other two groups,while the plasma potassium level was significantly lower than the other groups.Conclusions Three missense mutations were found in 46 patients with APA.The subjects with mutations had more serious condition than those without mutations after comparing their clinical phenotype.Besides,other different subtypes may exist in PA.
