Publikationsdatenbank

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

Art

Zeitschriftenartikel / wissenschaftlicher Beitrag

Autoren

Ritzka, Margit

Stanke, Frauke

Jansen, Silke

Gruber, Achim D (WE 12)

Pusch, Larissa

Woelfl, Stefan

Veeze, Henk J

Halley, Dicky J

Tümmler, Burkhard

Quelle

Human genetics; 115(6) — S. 483–491

ISSN: 0340-6717

Sprache

Englisch

Verweise

Pubmed: 15490240

Kontakt

Institut für Tierpathologie

Robert-von-Ostertag-Str. 15
Gebäude 12
14163 Berlin
+49 30 838 62450

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.