title: No evidence for angiotensin type 2 receptor gene polymorphism in intron 1 in patients with coarctation of the aorta and Ullrich-Turner syndrome.
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.
authors.affiliation: Children's Hospital, University of Erlangen-Nürnberg, Loschgestrasse 15, D-91045 Erlangen, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Struwe
authors.forename: K
authors.initials: K
authors.lastname: Krammer
authors.forename: J
authors.initials: J
authors.lastname: Dötsch
authors.forename: M
authors.initials: M
authors.lastname: Metzler
authors.forename: H G
authors.initials: HG
authors.lastname: Dörr
authors.forename: R
authors.initials: R
authors.lastname: Cesnjevar
authors.forename: W
authors.initials: W
authors.lastname: Rascher
authors.forename: A
authors.initials: A
authors.lastname: Koch
mesh_terms: D001017:Aortic Coarctation / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D044139:Receptor, Angiotensin, Type 2 / Q000235:genetics*; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics* / Q000378:metabolism
chemical_list: D044139:Receptor, Angiotensin, Type 2