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

• Autoři: 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
• Rok publikování: 2011
• Druh: Článek v odborném periodiku
• Časopis / Zdroj: Scandinavian journal of immunology
• Fakulta / Pracoviště MU: Lékařská fakulta
• Doi: http://dx.doi.org/10.1111/j.1365-3083.2011.02547.x
• Obor: Imunologie
• Klíčová slova: hereditary angioedema; polymorphism; ACE; MBL2; BDKR1; BDKR2; genotype; phenotype
• Popis: 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.