Genetic variations in the KCNJ5 gene in primary aldosteronism patients from Xinjiang, China

Autor: Nanfang Li, Ke-ming Zhou, Xiangyang Zhang, Suofeiya Abulikemu, Ju-hong Zhang, Hong-mei Wang, Hongjian Li, Xiaoguang Yao, Delian Zhang
Rok vydání: 2012
Předmět:
Male
Familial hyperaldosteronism
Anatomy and Physiology
lcsh:Medicine
Essential hypertension
Biochemistry
Endocrinology
Genotype
Pituitaryadenomas
lcsh:Science
Endocrine Tumors
Multidisciplinary
Hormone Synthesis
Middle Aged
Oncology
Hypertension
Medicine
Female
Research Article
Adult
medicine.medical_specialty
China
Single-nucleotide polymorphism
Endocrine System
Biology
Polymorphism
Single Nucleotide
Internal medicine
KCNJ5
Hyperaldosteronism
medicine
Genetics
Humans
Genetic Association Studies
Germ-Line Mutation
Evolutionary Biology
Endocrine Physiology
Population Biology
lcsh:R
Haplotype
Case-control study
Cancers and Neoplasms
Odds ratio
medicine.disease
Hormones
G Protein-Coupled Inwardly-Rectifying Potassium Channels
Haplotypes
Case-Control Studies
biology.protein
Genetic Polymorphism
lcsh:Q
Population Genetics
Zdroj: PLoS ONE
PLoS ONE, Vol 8, Iss 1, p e54051 (2013)
ISSN: 1932-6203
Popis: Background Primary aldosteronism (PA) is the most common endocrine form of secondary hypertension, and one of the most common subtypes of sporadic PA is aldosterone-producing adenoma (APA). Recently, two somatic mutations of the KCNJ5 gene were implicated in APA, and two germline mutations were associated with familial hyperaldosteronism III. Objectives This case-control study was designed to investigate the relationship between genetic variations in the KCNJ5 gene and sporadic PA patients in Xinjiang, China. Methods Five common single nucleotide polymorphisms (SNPs) of the KCNJ5 gene (rs6590357, rs4937391, rs3740835, rs2604204, and rs11221497) were detected in patients with sporadic PA (n = 235) and essential hypertension (EH; n = 913) by the TaqMan polymerase chain reaction method. Results The EH group and the PA group showed significant differences in the distributions of genotypes and alleles of rs4937391 and rs2604204 in total and male subjects (P
Databáze: OpenAIRE
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