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

• Published in: Pediatric cardiology 2006-10, Vol.27 (5), p.636-639
• Main Authors: Struwe, E, Krammer, K, Dötsch, J, Metzler, M, Dörr, H G, Cesnjevar, R, Rascher, W, Koch, A
• Format: Article
• Language: English
• Subjects: Aortic coarctation; Aortic Coarctation - complications; Aortic Coarctation - genetics; Aortic Coarctation - metabolism; Development and progression; Female; Genetic aspects; Genetic polymorphisms; Genotype; Health aspects; Humans; Introns - genetics; Male; Polymerase Chain Reaction; Polymorphism, Genetic; Receptor, Angiotensin, Type 2 - genetics; Turner syndrome; Turner Syndrome - complications; Turner Syndrome - genetics; Turner Syndrome - metabolism
• ISSN: 0172-0643; 1432-1971
• DOI: 10.1007/s00246-005-1049-6

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.