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

J 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.

Základní údaje

Originální název

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

Autoři

Vydání

Scandinavian journal of immunology, 2011, 0300-9475

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30102 Immunology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 2.230

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/11:00054430

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.1111/j.1365-3083.2011.02547.x

UT WoS

000292254900013

Klíčová slova anglicky

hereditary angioedema; polymorphism; ACE; MBL2; BDKR1; BDKR2; genotype; phenotype

Příznaky

Mezinárodní význam

Změněno: 11. 4. 2012 15:14, Mgr. Michal Petr

Anotace

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.

Citovat

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 a Jiří LITZMAN. No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene. Scandinavian journal of immunology. 2011, roč. 74, č. 1, s. 100-106. ISSN 0300-9475. Dostupné z: https://doi.org/10.1111/j.1365-3083.2011.02547.x.

@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 = {https://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 a 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, roč.~74, č.~1, s.~100-106. ISSN~0300-9475. Dostupné z: https://doi.org/10.1111/j.1365-3083.2011.02547.x.

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