Mutational analysis of KCNJ11 in Chinese elderly essential hypertensive patients

Author: Jiayue LI ; Zongbin LI ; Mei ZHU ; Yuqi LIU ; Yang LI ; Shiwen WANG ; Qinglei ZHU
Publication Type:Journal Article
Keywords: Essential hypertension; Phenotype; Genotype; Mutation; The elderly
From: Journal of Geriatric Cardiology 2012;09(2):153-157
CountryChina
Language:Chinese
Abstract: Objective To compare the distribution of KCNJ11 polymorphisms between elderly Chinese population with and without hypertension. Methods We examined the mutation of KCNJ11 gene by directly sequencing. Data for the present study were obtained from 250 hypertensive subjects (60 to 83 years old) as well as 250 normotensive subjects (60 to 86 years old). Results We found nine different mutations in KCNJ11, including six novel mutations (I131M, L147I, L147V, L147L, Q235H, G245C). None of the novel mutations were found in the normotensive subjects, and all the residues were conserved in other species. These sequence variants in Chinese population indicate the diversity of the human library and the complexity of hypertension. Conclusions The consistent finding of our present study provided a basis for the development of new strategies to diagnosis and treat hypertension in the elderly.