Original contributionExon 1 polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedema
Section snippets
Abbreviations
- B2BKR
type B2 receptor for bradykinin
- HAE
hereditary angioedema
- C1 INH
C1 inhibitor
Subjects
A careful personal history of the patients was obtained by physicians through questionnaires. Thirty-seven patients from 20 kindreds of Czech origin, who had clinical (except for one asymptomatic patient) and laboratory findings consistent with the diagnosis of HAE were studied. Particular data concerning the age of disease onset, the number and localization of swelling bouts before treatment, and the number of edema-related hospitalizations were collected. Patients were grouped according to
Results
The categorization of HAE patients according to the disease severity and the age of the first clinical manifestation of edema as well as results of B2BKR genotyping are summarized in Table 1. No significant differences in (+)21-29 (−)21-29 allelic frequencies and genotype distributions were found between a sample of the general population and HAE patients, or particular subgroups of HAE patients. Only the genotype distributions in the groups of patients with mild and severe course of disease,
Discussion
We did not find any significant difference in allelic frequencies or genotype distributions among the subgroups of HAE patients sorted either according to the disease severity, or according to the age of the first angioedema attack. It should be emphasized that comparisons concerning genotype distributions are of limited value because of the small numbers of patients in the tested subgroups. Of our 36 symptomatic HAE patients, 11 were carriers of (+)21-29/(+)21-29 genotype, while one
Acknowledgments
We thank Zdena Salajková for a technical help, and Petr Boček, M.D., Ph.D. for the critical review of the manuscript. This work was supported by the grant of the Ministry of Health of the Czech Republic No. NI/5558-3.
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