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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  Taq Man 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 <0.05), as well as rs3740835 in male subjects ( P <0.05). However, only the association between the rs2604204 genotype and male sporadic PA remained significant after Bonferroni’s correction ( P <0.01). Furthermore, logistic regression analysis demonstrated that the CC genotype of rs2604204 was a risk factor for male patients with sporadic PA, after adjusting for age and body mass index (odds ratio = 2.228, 95% CI: 1.300–3.819,  P  = 0.004).    Conclusion  The genetic variant rs2604204 of  KCNJ5  is associated with sporadic PA in Chinese males, suggesting that  KCNJ5  may be involved in the pathogenesis of sporadic PA in these particular patients.

Genetic Variations in the KCNJ5 Gene in Primary Aldosteronism Patients from Xinjiang, China