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

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F11%3A00054430" target="_blank" >RIV/00216224:14110/11:00054430 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11130/11:7046 RIV/00064203:_____/11:7046 RIV/00023728:_____/11:#0001006 RIV/00064190:_____/11:#0000202 RIV/00159816:_____/11:#0000815

  • Result on the web

    <a href="http://dx.doi.org/10.1111/j.1365-3083.2011.02547.x" target="_blank" >http://dx.doi.org/10.1111/j.1365-3083.2011.02547.x</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>

Alternative languages

  • Result language

    angličtina

  • Original language name

    No evidence for linkage between the hereditary angiooedema 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 causal 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 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.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    EC - Immunology

  • OECD FORD branch

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

    S - Specificky vyzkum na vysokych skolach

Others

  • Publication year

    2011

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Scandinavian journal of immunology

  • ISSN

    0300-9475

  • e-ISSN

  • Volume of the periodical

    74

  • Issue of the periodical within the volume

    1

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    7

  • Pages from-to

    100-106

  • UT code for WoS article

    000292254900013

  • EID of the result in the Scopus database