Exon 1 polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedema

Exon 1 polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedema

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 grou...

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Bibliographic Details
Published in:Human immunology Vol. 63; no. 6; pp. 492 - 494
Main Authors: Freiberger, Tomáš, Vyskočilová, Martina, Kolářová, Lenka, Kuklínek, Pavel, Kryštůfková, Olga, Lahodná, Marie, Hanzlíková, Jana, Litzman, J.iří
Format: Journal Article
Language:English
Published: United States Elsevier Inc 01-06-2002
Subjects:
Angioedema - diagnosis
Angioedema - genetics
B2 bradykinin receptor
clinical manifestation
Czech Republic
European Continental Ancestry Group
Exons
Female
Gene Frequency
Genotype
hereditary angioedema
Humans
Male
polymorphism
Polymorphism, Genetic
Receptor, Bradykinin B2
Receptors, Bradykinin - genetics
Czech Republic
hereditary angioedema
polymorphism
B2 bradykinin receptor
clinical manifestation
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Summary: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.
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ISSN:0198-8859
1879-1166
DOI:10.1016/S0198-8859(02)00397-X