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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

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

  • Czech description

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

Result continuities

  • Project

  • 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

  • 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