Angiotensinogen gene polymorphism at -217 affects basal promoter activity and is associated with hypertension in African-Americans

J Biol Chem. 2002 Sep 27;277(39):36889-96. doi: 10.1074/jbc.M204732200. Epub 2002 Jul 26.

Abstract

Hypertension is a serious health problem in Western society, in particular for the African-American population. Although previous studies have suggested that the angiotensinogen (AGT) gene locus is involved in human essential hypertension, the molecular mechanisms involved in hypertension in African-Americans remain unknown. We show that an A/G polymorphism at -217 in the promoter of the AGT gene plays a significant role in hypertension in African-Americans. The frequency of the -217A allele was increased significantly in African-American hypertensive subjects compared with normotensive controls. We also show that the nucleotide sequence of this region of the AGT gene promoter bound strongly to CAAT/enhancer-binding protein (C/EBP) family transcription factors when nucleoside A was present at -217. In addition, we show that reporter constructs containing the human AGT gene promoter with nucleoside A at -217 had increased basal transcriptional activity upon transient transfection in HepG2 cells compared with reporter constructs with nucleoside G at -217. Finally, we show that interleukin-6 treatment in the presence or absence of overexpressed C/EBPbeta increased the promoter activities of reporter constructs containing nucleoside A at -217 compared with reporter constructs containing nucleoside G at -217. Because the AGT gene is expressed primarily in liver and adipose tissue, and C/EBP family transcription factors play an important role in gene expression in these tissues, we propose that increased transcriptional activity of the -217A allele of the human AGT gene is associated with hypertension in African-Americans.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Angiotensinogen / genetics*
  • Black People
  • Cell Line
  • Female
  • Genes, Reporter
  • Humans
  • Hypertension / genetics*
  • Male
  • Middle Aged
  • Oligonucleotides / metabolism
  • Plasmids / metabolism
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic*
  • Protein Binding
  • Transfection
  • United States

Substances

  • Oligonucleotides
  • Angiotensinogen