About: Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia     Goto   Sponge   NotDistinct   Permalink

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  • 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 alleles were distorted at several loci unlinked to CFTR. Conclusions The inherited capabilities of the innate and adaptive immune system determine the manifestation of the CF basic defect. Variants on F508del-CFTR chromosomes contribute to the observed patient-to-patient variability among F508del-CFTR homozygotes. A survivor effect, manifesting as a transmission disequilibrium at many loci, is consistent with the improvement of clinical care over the last decades, resulting in a depletion of risk alleles at modifier genes. Awareness of non-genetic factors such as improvement of patient care over time is crucial for the interpretation of CF modifier studies
  • 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 alleles were distorted at several loci unlinked to CFTR. Conclusions The inherited capabilities of the innate and adaptive immune system determine the manifestation of the CF basic defect. Variants on F508del-CFTR chromosomes contribute to the observed patient-to-patient variability among F508del-CFTR homozygotes. A survivor effect, manifesting as a transmission disequilibrium at many loci, is consistent with the improvement of clinical care over the last decades, resulting in a depletion of risk alleles at modifier genes. Awareness of non-genetic factors such as improvement of patient care over time is crucial for the interpretation of CF modifier studies (en)
Title
  • Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia
  • Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia (en)
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  • Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia
  • Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia (en)
skos:notation
  • RIV/00064203:_____/11:7264!RIV12-MZ0-00064203
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • I, Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika
  • 1
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 200978
http://linked.open...ai/riv/idVysledku
  • RIV/00064203:_____/11:7264
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • chloride channel; Fas antigen; interleukin 1beta; STAT3 protein; toll like receptor 9; transmembrane conductance regulator; tumor necrosis factor alpha; tumor necrosis factor receptor; adaptive immunity; allele; article; chromosome; controlled study; cystic fibrosis; disease severity; gene; gene frequency; gene locus; genetic marker; genetic variability; haplotype; homozygote; human; immunology; inflammation; innate immunity; intestine epithelium cell; ion conductance; lung alveolus epithelium; major clinical study; patient care; priority journal; Alleles; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Environment; Epithelial Cells; Genetic Association Studies; Genetic Heterogeneity; Homozygote; Humans; Inflammation; Inheritance Patterns; Ion Channel Gating; Ion Transport; Microsatellite Repeats; Models, Genetic (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV
  • [D61B1DD2850C]
http://linked.open...i/riv/nazevZdroje
  • Journal of Medical Genetics
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 48
http://linked.open...iv/tvurceVysledku
  • Kumar, V.
  • Macek jr., Milan
  • Ballmann, M.
  • Becker, Ch.
  • Becker, T.
  • Cassiman, J.
  • Cuppens, H.
  • Fernandez, L.
  • Greipel, J.
  • Hedtfeld, S.
  • Laabs, U.
  • Radojkovic, D.
  • Siebert, B.
  • Stanke, F.
  • Tamm, S.
  • Tuemmler, B.
  • Wienker, T.
  • Yarden, J.
http://linked.open...ain/vavai/riv/wos
  • 000285383600004
http://linked.open...n/vavai/riv/zamer
issn
  • 0022-2593
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