title: Genetic variations in the KCNJ5 gene in primary aldosteronism patients from Xinjiang, China.
abstract: 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.
  
  
  OBJECTIVE
  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<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).
  
  
  CONCLUSIONS
  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.
authors: The Center of Hypertension of the People's Hospital of Xinjiang Uygur Autonomous Region, The Center of Diagnosis, Treatment and Research of Hypertension in Xinjiang, Urumqi, China. lnanfang@yahoo.com.cn
authors: Nan-Fang
authors: NF
authors: Li
authors: Hong-Jian
authors: HJ
authors: Li
authors: De-Lian
authors: DL
authors: Zhang
authors: Ju-Hong
authors: JH
authors: Zhang
authors: Xiao-Guang
authors: XG
authors: Yao
authors: Hong-Mei
authors: HM
authors: Wang
authors: Suofeiya
authors: S
authors: Abulikemu
authors: Ke-Ming
authors: KM
authors: Zhou
authors: Xiang-Yang
authors: XY
authors: Zhang
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D002681:China; D005260:Female; D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels / Q000235:genetics*; D056726:Genetic Association Studies; D018095:Germ-Line Mutation; D006239:Haplotypes; D006801:Humans; D006929:Hyperaldosteronism / Q000235:genetics* / Q000473:pathology; D006973:Hypertension / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels; C484274:KCNJ5 protein, human
references: EMBO J. 2008 Jan 9;27(1):179-87
references: 18034154
references: J Biol Chem. 1998 Oct 16;273(42):27499-504
references: 9765280
references: Science. 2011 Feb 11;331(6018):768-72
references: 21311022
references: J Clin Endocrinol Metab. 2008 Sep;93(9):3266-81
references: 18552288
references: Hypertension. 2006 Aug;48(2):232-8
references: 16801482
references: Annu Rev Biochem. 2010;79:351-79
references: 20533884
references: Eur J Endocrinol. 2010 Oct;163(4):671-80
references: 20660004
references: Nature. 1995 Mar 9;374(6518):135-41
references: 7877685
references: BMC Med Genet. 2010 Aug 13;11:124
references: 20707915
references: Cell. 2007 Dec 28;131(7):1273-86
references: 18155131
references: EMBO J. 2007 Aug 8;26(15):3699-708
references: 17627278
references: J Clin Endocrinol Metab. 2012 Apr;97(4):1311-9
references: 22278422
references: J Clin Endocrinol Metab. 2005 Jan;90(1):72-8
references: 15483077
references: Physiol Rev. 2010 Jan;90(1):291-366
references: 20086079
references: Proc Natl Acad Sci U S A. 2008 Feb 12;105(6):2203-8
references: 18250325
references: Hypertension. 2012 Feb;59(2):235-40
references: 22203740
references: J Hypertens. 2012 Sep;30(9):1827-33
references: 22743686
references: Ann Clin Biochem. 2012 Jul;49(Pt 4):369-76
references: 22645387
references: Arch Intern Med. 2008 Jan 14;168(1):80-5
references: 18195199
references: PLoS One. 2012;7(7):e41926
references: 22848660
references: Heart Lung Circ. 2009 Aug;18(4):257-61
references: 19208499
references: Hypertension. 2012 Mar;59(3):592-8
references: 22275527
references: Cardiology. 2011;118(2):116-20
references: 21555883
references: J Clin Endocrinol Metab. 2009 Apr;94(4):1125-30
references: 19190103
references: Cell. 2009 Aug 21;138(4):673-84
references: 19703394
references: Proc Natl Acad Sci U S A. 1993 Nov 1;90(21):10235-9
references: 8234283
references: JAMA. 2006 Jun 14;295(22):2638-45
references: 16772627
references: Hypertension. 2012 Mar;59(3):587-91
references: 22252394
references: PLoS One. 2011;6(10):e25449
references: 21998658
references: Proc Natl Acad Sci U S A. 2012 Feb 14;109(7):2533-8
references: 22308486
references: J Clin Endocrinol Metab. 2005 Sep;90(9):5070-6
references: 15941863