title: Exon 1 polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedema.
abstract: Polymorphic variants of B2 receptors for bradykinin (B2BKR) have been postulated to influence a clinical manifestation of hereditary angioedema. In this study, exon 1 nonanucleotide deletion polymorphism in the B2BKR gene was examined in 37 patients with hereditary angioedema. The patients were grouped according to disease severity or the age of the first clinical manifestation of disease. No significant differences in allelic frequencies were found between particular subgroups of patients. Therefore, we concluded that this polymorphism does not seem to have any significant effect on the course and severity of hereditary angioedema in Caucasians.
authors.affiliation: Department of Immunogenetics, Research Institute of Child Health, Brno, Czech Republic. tomf@vuzd.cz
authors.forename: Tomás
authors.initials: T
authors.lastname: Freiberger
authors.forename: Martina
authors.initials: M
authors.lastname: Vyskocilová
authors.forename: Lenka
authors.initials: L
authors.lastname: Kolárová
authors.forename: Pavel
authors.initials: P
authors.lastname: Kuklínek
authors.forename: Olga
authors.initials: O
authors.lastname: Krystůfková
authors.forename: Marie
authors.initials: M
authors.lastname: Lahodná
authors.forename: Jana
authors.initials: J
authors.lastname: Hanzlíková
authors.forename: Jirí
authors.initials: J
authors.lastname: Litzman
mesh_terms: D000799:Angioedema / Q000175:diagnosis* / Q000235:genetics*; D018153:Czech Republic; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D043782:Receptor, Bradykinin B2; D018002:Receptors, Bradykinin / Q000235:genetics*; D044465:White People
chemical_list: D043782:Receptor, Bradykinin B2; D018002:Receptors, Bradykinin