Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F11%3A7264" target="_blank" >RIV/00064203:_____/11:7264 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/11:7264
Result on the web
<a href="http://www.ncbi.nlm.nih.gov/pubmed/20837493" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/20837493</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia
Original language description
Background The cystic fibrosis (CF) basic defect, caused by dysfunction of the apical chloride channel CFTR in the gastrointestinal and respiratory tract epithelia, has not been employed so far to support the role of CF modifier genes. Methods Patients were selected from 101 families with a total of 171 F508del-CFTR homozygous CF patients to identify CF modifying genes. A candidate gene based association study of 52 genes on 16 different chromosomes with a total of 182 genetic markers was performed. Differences in haplotype and/or diplotype distribution between case and reference CF subpopulations were analysed. Results Variants at immunologically relevant genes were associated with the manifestation of the CF basic defect (0.01< Praw< 0.0001 at IL1B,TLR9, TNF alpha, CD95, STAT3 and TNFR). The intragenic background of F508del-CFTR chromosomes determined disease severity and manifestation of the basic defect (Praw=0.0009). Allele distributions comparing transmitted and non-transmitted
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
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Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
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
Journal of Medical Genetics
ISSN
0022-2593
e-ISSN
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Volume of the periodical
48
Issue of the periodical within the volume
1
Country of publishing house
GB - UNITED KINGDOM
Number of pages
8
Pages from-to
24-31
UT code for WoS article
000285383600004
EID of the result in the Scopus database
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