title: Risk given by AGT polymorphisms in inducing susceptibility to essential hypertension among isolated populations from a remote region of China: A case-control study among the isolated populations.
abstract: BACKGROUND
  Hypertension is a serious risk factor affecting up to 30% of the world's population with a heritability of more than 30-50%. The aim of this study was to investigate the contribution of the polymorphisms localized in the angiotensinogen (AGT) gene, a main component of the renin-angiotensin-aldosterone system, in inducing the susceptibility to essential hypertension (EH) among isolated populations (Yi and Hani minorities) with low prevalence rate from the remote region of Yunnan in China.
  
  
  METHODS
  A case-control association study was performed, and all subjects were genotyped for the seven single nucleotide polymorphisms localized in the AGT region by polymerase chain reaction-restriction fragment length polymorphism analysis.
  
  
  RESULTS
  Three polymorphisms, i.e. rs5046, rs5049, and rs2478544, were significantly associated with EH among the Hani minority. The associations, found in the Yi minority, did not reach a conclusive level of statistical significance. The polymorphisms of rs2478544 and rs5046 caused the transformations of exonic splicing enhancer sites and transcription factor binding sites, respectively, in the bioinformatic analyses. The haplotype-rs5046T, rs5049A, rs11568020G, rs3789679C, rs2478544C was susceptible for EH among the Hani minority.
  
  
  CONCLUSIONS
  Our findings suggested that the AGT polymorphisms have played a vital role in determining an individual's susceptibility to EH among the isolated population, which would be helpful for EH management in the remote mountainous region of Yunnan in China.
authors.affiliation: School of Medicine, Yunnan University, Kunming, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Li
authors.affiliation: School of Medicine, Yunnan University, Kunming, China.
authors.forename: Lijuan
authors.initials: L
authors.lastname: Sun
authors.affiliation: School of Medicine, Yunnan University, Kunming, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Du
authors.affiliation: School of Medicine, Yunnan University, Kunming, China.
authors.forename: Pengzhan
authors.initials: P
authors.lastname: Ran
authors.affiliation: School of Medicine, Yunnan University, Kunming, China.
authors.forename: Tangxin
authors.initials: T
authors.lastname: Gao
authors.affiliation: School of Medicine, Yunnan University, Kunming, China.
authors.forename: Yuncang
authors.initials: Y
authors.lastname: Yuan
authors.affiliation: School of Medicine, Yunnan University, Kunming, China chjxiao@ynu.edu.cn.
authors.forename: Chunjie
authors.initials: C
authors.lastname: Xiao
mesh_terms: D000483:Alleles; D000808:Angiotensinogen / Q000235:genetics*; D001794:Blood Pressure; D016022:Case-Control Studies; D002681:China; D019295:Computational Biology; D003971:Diastole; D000075222:Essential Hypertension; D005006:Ethnicity / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D006973:Hypertension / Q000235:genetics* / Q000503:physiopathology; D015810:Linkage Disequilibrium / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D013599:Systole
chemical_list: D000808:Angiotensinogen
keywords: Angiotensinogen; China; Hani minority; Yi minority; association study; essential hypertension; isolated population; single nucleotide polymorphism