Detailed Information on Publication Record
2011
No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene.
FREIBERGER, Tomáš, Hana GROMBIŘÍKOVÁ, Barbora RAVČUKOVÁ, Jiří JARKOVSKÝ, Pavel KUKLÍNEK et. al.Basic information
Original name
No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene.
Authors
FREIBERGER, Tomáš (203 Czech Republic, guarantor, belonging to the institution), Hana GROMBIŘÍKOVÁ (203 Czech Republic), Barbora RAVČUKOVÁ (203 Czech Republic), Jiří JARKOVSKÝ (203 Czech Republic, belonging to the institution), Pavel KUKLÍNEK (203 Czech Republic, belonging to the institution), Olga KRYŠTŮFKOVÁ (203 Czech Republic), Jana HANZLÍKOVÁ (203 Czech Republic), Eva DAŇKOVÁ (203 Czech Republic), Otakar KOPECKÝ (203 Czech Republic), Radana ZACHOVÁ (203 Czech Republic), Marie LAHODNÁ (203 Czech Republic), Martina VAŠÁKOVÁ (203 Czech Republic), Lucie GRODECKÁ (203 Czech Republic) and Jiří LITZMAN (203 Czech Republic, belonging to the institution)
Edition
Scandinavian journal of immunology, 2011, 0300-9475
Other information
Language
English
Type of outcome
Článek v odborném periodiku
Field of Study
30102 Immunology
Country of publisher
United States of America
Confidentiality degree
není předmětem státního či obchodního tajemství
Impact factor
Impact factor: 2.230
RIV identification code
RIV/00216224:14110/11:00054430
Organization unit
Faculty of Medicine
UT WoS
000292254900013
Keywords in English
hereditary angioedema; polymorphism; ACE; MBL2; BDKR1; BDKR2; genotype; phenotype
Tags
International impact
Změněno: 11/4/2012 15:14, Mgr. Michal Petr
Abstract
V originále
Hereditary angiooedema (HAE) is a life-threatening disease with poor clinical phenotype correlation with its causal mutation in the C1 inhibitor (SERPING1) gene. It is characterized by substantial symptom variability even in affected members of the same family. Therefore, it is likely that genetic factors outside the SERPING1 gene have an influence on disease manifestation. In this study, functional polymorphisms in genes with a possible disease-modifying effect, B1 and B2 bradykinin receptors (BDKR1, BDKR2), angiotensin-converting enzyme (ACE) and mannose-binding lectin (MBL2), were analysed in 36 unrelated HAE patients. The same analysis was carried out in 69 HAE patients regardless of their familial relationship. No significant influence of the studied polymorphisms in the BDKR1, BDKR2, ACE and MBL2 genes on overall disease severity, localization and severity of particular attacks, frequency of oedema episodes or age of disease onset was detected in either group of patients. Other genetic and/or environmental factors should be considered to be responsible for HAE clinical variability in Caucasians.