CA-repeat polymorphism in intron 1 of HSD11B2: Effects on gene expression and salt sensitivity

Anil K. Agarwal, Gilberta Giacchetti, Gareth Lavery, Heli Nikkila, Mario Palermo, Marie Ricketts, Claire McTernan, Giuseppe Bianchi, Paolo Manunta, Pasquale Strazzullo, Franco Mantero, Perrin C. White, Paul M. Stewart

Research output: Contribution to journalArticlepeer-review


Mutations in the HSD11B2 gene encoding the kidney (11-HSD2) isozyme of 11β-hydroxysteroid dehydrogenase cause apparent mineralocorticoid excess, a form of familial hypertension. Because the hypertension associated with AME is of the salt-sensitive type, it seemed possible that decreases in 11-HSD2 activity might be associated with salt sensitivity. To examine this, Italians with mild hypertension underwent a protocol consisting of a rapid intravenous saline infusion and subsequent furosemide diuresis. To determine whether there were genetic associations between HSD11B2 and salt sensitivity, 198 Italians were genotyped for a CA repeat polymorphism (11 alleles) in the first intron. Increased differences in mean arterial pressure between the sodium loaded and depleted states were correlated with shorter CA repeat length (R=0.214, P=0.0025). The effect behaved as a recessive trait. This suggested that decreased HSD11B2 expression was associated with shorter CA repeat length. Furthermore, activity of renal 11-HSD2 as measured by an increase in the ratio of urinary-free cortisol/urinary-free cortisone was lower in 33 salt-sensitive subjects (urinary-free cortisol/urinary-free cortisone 0.89±0.04 [mean±SE]) compared with 34 salt-resistant subjects (0.71±0.04, P

Original languageEnglish
Pages (from-to)187-194
Number of pages8
Issue number2
Publication statusPublished - 2000


  • Dehydrogenases
  • Dinucleotide repeat
  • Gene expression
  • Hypertension, genetic
  • Polymorphism

ASJC Scopus subject areas

  • Internal Medicine


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