Fachbereich Veterinärmedizin



    The CLCA Gene Locus as a Modulator of the Gastrointestinal Basic Defect in Cystic Fibrosis (2004)

    Zeitschriftenartikel / wissenschaftlicher Beitrag
    Ritzka, Margit
    Stanke, Frauke
    Jansen, Silke
    Gruber, Achim D (WE 12)
    Pusch, Larissa
    Woelfl, Stefan
    Veeze, Henk J
    Halley, Dicky J
    Tümmler, Burkhard
    Human genetics; 115(6) — S. 483–491
    ISSN: 0340-6717
    Pubmed: 15490240
    Institut für Tierpathologie

    Robert-von-Ostertag-Str. 15
    Gebäude 12
    14163 Berlin
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    Abstract / Zusammenfassung

    To determine whether the CLCA gene family of calcium-activated chloride channels is a modulator of the basic defect of cystic fibrosis (CF), an association study was performed with polymorphic microsatellite markers covering a 40-Mbp region spanning the CLCA gene locus on human chromosome 1p in CF patients displaying CF transmembrane conductance regulator (CFTR)-independent residual chloride conductance in gastrointestinal epithelia. Statistically significant association of the electrophysiological phenotype with the allele distribution of markers 5' of and within the CLCA locus was observed. Transmission disequilibrium and the significance of the association decreased within the locus from hCLCA2 towards hCLCA4. Expression of hCLCA1 and hCLCA4 in human rectal mucosa was proven by microarray analysis. The CLCA gene region was identified to encode mediators of DIDS-sensitive anion conductance in the human gastrointestinal tract that modulate the CF basic defect.