Abstract | BACKGROUND:
Primary sclerosing cholangitis (PSC) is a chronic progressive cholestatic liver disease of uncertain etiology. However, the histologic features of PSC liver disease can resemble those in cystic fibrosis (CF), an inherited disorder caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We sought to determine if PSC patients have a higher frequency of common CF alleles than disease controls. METHODS: RESULTS: One of 59 PSC patients (1.7%) had the common CF mutation (DeltaF508) in one CFTR gene. Two controls (3.3%) carried a single CF mutation (DeltaF508 in one primary biliary cirrhosis patient; W1282X in one hepatitis C patient). These rates do not differ from expected in the general population. The frequency of CFTR variants (5T and M470V) was also similar between PSC patients and controls. CONCLUSIONS: Despite anatomical similarities between CF liver disease and PSC, we could not confirm that PSC patients carried common CF mutations or common CFTR variants in higher than expected frequencies. These data suggest that CFTR dysfunction does not influence the pathogenesis of PSC.
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Authors | Juan F Gallegos-Orozco, Catherine E Yurk, Nulang Wang, Jorge Rakela, Michael R Charlton, Garry R Cutting, Vijayan Balan |
Journal | The American journal of gastroenterology
(Am J Gastroenterol)
Vol. 100
Issue 4
Pg. 874-8
(Apr 2005)
ISSN: 0002-9270 [Print] United States |
PMID | 15784035
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- CFTR protein, human
- Cystic Fibrosis Transmembrane Conductance Regulator
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Topics |
- Adult
- Aged
- Alleles
- Biopsy
- Cholangitis, Sclerosing
(diagnosis, genetics, pathology)
- Cystic Fibrosis
(diagnosis, genetics, pathology)
- Cystic Fibrosis Transmembrane Conductance Regulator
(genetics)
- DNA Mutational Analysis
- Female
- Gene Frequency
(genetics)
- Genetic Variation
- Genotype
- Hepatitis C
(diagnosis, genetics, pathology)
- Hepatitis, Autoimmune
(diagnosis, genetics, pathology)
- Humans
- Liver
(pathology)
- Male
- Middle Aged
- Phenotype
- Statistics as Topic
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