No evidence for angiotensin type 2 receptor gene polymorphism in intron 1 in patients with coarctation of the aorta and Ullrich-Turner syndrome

Pediatr Cardiol. 2006 Sep-Oct;27(5):636-9. doi: 10.1007/s00246-005-1049-6. Epub 2006 Aug 30.

Abstract

In male patients with congenital anomalies of the kidney and urinary tract, an increased incidence of a polymorphism in the angiotensin type 2 receptor gene (AT2R) has been identified. The AT2R has been shown to be involved in apoptosis, particularly during embryogenesis. The aim of this study was to examine the A-->1675G transition polymorphism in intron 1 of the AT2R gene that is located on the X chromosome in patients with coarctation of the aorta (CoA) with and without Ullrich-Turner syndrome (UTS). Screening of DNA samples was performed with restriction fragment length polymorphism analysis. Ninety-seven patients with CoA, 28 girls with UTS, 10 girls with UTS and CoA, and 96 control individuals were studied. There was no significant difference in the distribution of A and G-genotypes in any of the patient groups compared to controls. An A-->1675G transition in the AT2R gene seems not to be involved in the pathogenesis of aortic coarctation.

Publication types

  • Comparative Study

MeSH terms

  • Aortic Coarctation / complications
  • Aortic Coarctation / genetics*
  • Aortic Coarctation / metabolism
  • Female
  • Genotype
  • Humans
  • Introns / genetics*
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Receptor, Angiotensin, Type 2 / genetics*
  • Turner Syndrome / complications
  • Turner Syndrome / genetics*
  • Turner Syndrome / metabolism

Substances

  • Receptor, Angiotensin, Type 2