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

Authors

FREIBERGER Tomáš VYSKOČILOVÁ Martina KOLÁŘOVÁ Lenka KUKLÍNEK Pavel KRYŠTŮFKOVÁ Olga LAHODNÁ Marie HANZLÍKOVÁ Jana LITZMAN Jiří

Year of publication 2002
Type Article in Periodical
Magazine / Source Hum Immunol
MU Faculty or unit

Faculty of Medicine

Citation
Field Immunology
Keywords B2 bradykinin receptor; polymorphism; hereditary angioedema
Description 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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