Crohn's disease - genetic factors and progress of the disease.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61988987%3A17110%2F18%3AA1901SMQ" target="_blank" >RIV/61988987:17110/18:A1901SMQ - isvavai.cz</a>
Alternative codes found
RIV/61989100:27640/18:10237217 RIV/00843989:_____/18:E0107133
Result on the web
<a href="http://dx.doi.org/10.5507/bp.2017.058" target="_blank" >http://dx.doi.org/10.5507/bp.2017.058</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.5507/bp.2017.058" target="_blank" >10.5507/bp.2017.058</a>
Alternative languages
Result language
angličtina
Original language name
Crohn's disease - genetic factors and progress of the disease.
Original language description
Background and Objectives. Crohn?s disease is a multifactorial inflammatory disease affecting mainly the gastrointestinaltract. The genetic factors that are involved in the disease include mainly three mutations of the gene NOD2/CARD15 (R702W, G908R, 3020insC). The aim of this study was to determine the relationship between the presence ofthese variants and disease phenotype.Material and Methods. 70 patients with Crohn?s disease were examined for the presence of the above-mentionedmutations. The researchers used the medical records to retrospectively obtain clinical data and together with the informationobtained prospectively according to the protocol they analysed the connection between gene mutationsand disease phenotype.Results. At least one mutation was found in 22 patients with Crohn?s disease (32%), four patients were found to havetwo different mutations (composed heterozygotes - 6%) and six patients (9%) were homozygotes for the 3020insCgene. No significant differences were found between the groups with wild-type form and the mutated form of theNOD2 / CARD15 gene with respect to age at the time of diagnosis, form of the disease or localization according to theMontreal classification.Conclusion. Mutations of the NOD2 / CARD15 gene did not significantly affect the frequency of reoperations, homozygoteswith 3020insC gene mutations, however, represented a high risk group. The phenotype was not relatedsignificantly to the presence of the examined mutations.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30219 - Gastroenterology and hepatology
Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Biomedical Papers
ISSN
1213-8118
e-ISSN
1804-7521
Volume of the periodical
2
Issue of the periodical within the volume
162
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
5
Pages from-to
139-143
UT code for WoS article
000436347500011
EID of the result in the Scopus database
2-s2.0-85049067609