Elsevier

Human Immunology

Volume 63, Issue 6, June 2002, Pages 492-494
Human Immunology

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

https://doi.org/10.1016/S0198-8859(02)00397-XGet rights and content

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.

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.

References (7)

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