J 2002

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

FREIBERGER, Tomáš, Martina VYSKOČILOVÁ, Lenka KOLÁŘOVÁ, Pavel KUKLÍNEK, Olga KRYŠTŮFKOVÁ et. al.

Basic information

Original name

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

Name in Czech

Polymorfismy genu B2BKR nemají vliv na klinický stav pacientů s HAE

Authors

FREIBERGER, Tomáš (203 Czech Republic, guarantor), Martina VYSKOČILOVÁ (203 Czech Republic), Lenka KOLÁŘOVÁ (203 Czech Republic), Pavel KUKLÍNEK (203 Czech Republic), Olga KRYŠTŮFKOVÁ (203 Czech Republic), Marie LAHODNÁ (203 Czech Republic), Jana HANZLÍKOVÁ (203 Czech Republic) and Jiří LITZMAN (203 Czech Republic)

Edition

Hum Immunol, Elsevier, 2002, 0198-8859

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30102 Immunology

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 2.573

RIV identification code

RIV/00216224:14110/02:00007516

Organization unit

Faculty of Medicine

UT WoS

000176152800008

Keywords in English

B2 bradykinin receptor; polymorphism; hereditary angioedema
Změněno: 27/6/2009 07:38, prof. MUDr. Tomáš Freiberger, Ph.D.

Abstract

V originále

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.

Links

NI5558, research and development project
Name: Molekulárně genetická analýza u pacientů s hereditárním angioedémem
Investor: Ministry of Health of the CR, Molecular Genetic Analysis in Patients with Hereditary Angioedema