No Evidence for Angiotensin Type 2 Receptor Gene Polymorphism in Intron 1 in Patients with Coarctation of the Aorta and Ullrich–Turner Syndrome
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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.
KeywordsAT2R gene Polymorphism Aortic coarctation Ullrich–Turner syndrome
We thank Ulla Jacobs and Ida Allabauer for excellent technical assistance.