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@article{962384,
author = {Freiberger, Tomáš and Grombiříková, Hana and Ravčuková, Barbora and Jarkovský, Jiří and Kuklínek, Pavel and Kryštůfková, Olga and Hanzlíková, Jana and Daňková, Eva and Kopecký, Otakar and Zachová, Radana and Lahodná, Marie and Vašáková, Martina and Grodecká, Lucie and Litzman, Jiří},
article_number = {1},
doi = {http://dx.doi.org/10.1111/j.1365-3083.2011.02547.x},
keywords = {hereditary angioedema; polymorphism; ACE; MBL2; BDKR1; BDKR2; genotype; phenotype},
language = {eng},
issn = {0300-9475},
journal = {Scandinavian journal of immunology},
title = {No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene.},
volume = {74},
year = {2011}
}
TY - JOUR
ID - 962384
AU - Freiberger, Tomáš - Grombiříková, Hana - Ravčuková, Barbora - Jarkovský, Jiří - Kuklínek, Pavel - Kryštůfková, Olga - Hanzlíková, Jana - Daňková, Eva - Kopecký, Otakar - Zachová, Radana - Lahodná, Marie - Vašáková, Martina - Grodecká, Lucie - Litzman, Jiří
PY - 2011
TI - No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene.
JF - Scandinavian journal of immunology
VL - 74
IS - 1
SP - 100-106
EP - 100-106
SN - 03009475
KW - hereditary angioedema
KW - polymorphism
KW - ACE
KW - MBL2
KW - BDKR1
KW - BDKR2
KW - genotype
KW - phenotype
N2 - 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.
ER -
FREIBERGER, Tomáš, Hana GROMBIŘÍKOVÁ, Barbora RAVČUKOVÁ, Jiří JARKOVSKÝ, Pavel KUKLÍNEK, Olga KRYŠTŮFKOVÁ, Jana HANZLÍKOVÁ, Eva DAŇKOVÁ, Otakar KOPECKÝ, Radana ZACHOVÁ, Marie LAHODNÁ, Martina VAŠÁKOVÁ, Lucie GRODECKÁ and Jiří LITZMAN. No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene. \textit{Scandinavian journal of immunology}. 2011, vol.~74, No~1, p.~100-106. ISSN~0300-9475. Available from: https://dx.doi.org/10.1111/j.1365-3083.2011.02547.x.
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