No evidence for linkage between the hereditary angioedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209775%3A_____%2F11%3A%230000231" target="_blank" >RIV/00209775:_____/11:#0000231 - isvavai.cz</a>
Result on the web
<a href="http://onlinelibrary.wiley.com/doi/10.1111/4j..136-3083.2011.02547.x/pdf" target="_blank" >http://onlinelibrary.wiley.com/doi/10.1111/4j..136-3083.2011.02547.x/pdf</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/j.1365-3083.2011.02547.x" target="_blank" >10.1111/j.1365-3083.2011.02547.x</a>

Result language
angličtina
Original language name
No evidence for linkage between the hereditary angioedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene
Original language description
Hereditary angiooedema (HAE) is a life-threatening disease with poor clinical phenotype correlation with its casual mutation in the C1 inhibitor (SERPING1) gene. It is characterized by substantial symptom variability even in affected members of the samefamily. 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 desease-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 g
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FN - Epidemiology, infection diseases and clinical immunology
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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