ArticleHuman genetics2003
Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.
Article in Human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 100 citations in OpenAlex.
- Review
- Primary Sclerosing Cholangitis and Inflammatory Bowel Disease: A Review.Journal of clinical and translational hepatology · 2022Review
- The S100A7 nuclear interactors in autoimmune diseases: a coevolutionary study in mammals.Immunogenetics · 2022Article
- Article
- Rodent models of cholestatic liver disease: A practical guide for translational research.Liver international : official journal of the International Association for the Study of the Liver · 2021Review
- A Novel Pathogenic Variant of theJournal of pediatric genetics · 2020Article
- Preclinical insights into cholangiopathies: disease modeling and emerging therapeutic targets.Expert opinion on therapeutic targets · 2019Review
- Cystic fibrosis from the gastroenterologist's perspective.Nature reviews. Gastroenterology & hepatology · 2016Review
- Mechanisms of tissue injury in autoimmune liver diseases.Seminars in immunopathology · 2014Review
- Gene-gene and gene-environment interactions in ulcerative colitis.Human genetics · 2014Article
- Pathogenesis of primary sclerosing cholangitis and advances in diagnosis and management.Gastroenterology · 2013Review
- Primary Sclerosing Cholangitis: Current and Future Management Strategies.Current hepatitis reports · 2013Article
- CFTR dysfunction predisposes to fibrotic liver disease in a murine model.American journal of physiology. Gastrointestinal and liver physiology · 2012Article
- The safety and efficacy of oral docosahexaenoic acid supplementation for the treatment of primary sclerosing cholangitis - a pilot study.Alimentary pharmacology & therapeutics · 2012Article
- Cutting edge issues in primary sclerosing cholangitis.Clinical reviews in allergy & immunology · 2011Article
- Fibrosis in autoimmune and cholestatic liver disease.Best practice & research. Clinical gastroenterology · 2011Review
- Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis.PloS one · 2010Article
- Etiopathogenesis of primary sclerosing cholangitis.World journal of gastroenterology · 2008Review
- Patterns of gastrointestinal disease associated with mutations of CFTR.Current gastroenterology reports · 2008Review
- Lessons from the toxic bile concept for the pathogenesis and treatment of cholestatic liver diseases.Wiener medizinische Wochenschrift (1946) · 2008Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
Primary sclerosing cholangitis (PSC) and cystic fibrosis (CF) are both slowly progressive cholestatic liver diseases characterized by fibro-obliterative inflammation of the biliary tract. We hypothesized that dysfunction of the CF gene product, cystic fibrosis transmembrane conductance regulator (CFTR), may explain why a subset of patients with inflammatory bowel disease develop PSC. We prospectively evaluated CFTR genotype and phenotype in patients with PSC ( n=19) compared with patients with inflammatory bowel disease and no liver disease ( n=18), primary biliary cirrhosis ( n=17), CF ( n=81), and healthy controls ( n=51). Genetic analysis of the CFTR gene in PSC patients compared with disease controls (primary biliary cirrhosis and inflammatory bowel disease) demonstrated a significantly increased number of mutations/variants in the PSC group (37% vs 8.6% of disease controls, P=0.02). None of the PSC patients carried two mutations/variants. Of PSC patients, 89% carried the 1540G-variant-containing genotypes (resulting in decreased functional CFTR) compared with 57% of disease controls ( P=0.03). Only one of 19 PSC patients had neither a CFTR mutation nor the 1540G variant. CFTR chloride channel function assessed by nasal potential difference testing demonstrated a reduced median isoproterenol response of 14 mV in PSC patients compared with 19 mV in disease controls ( P=0.04) and 21 mV in healthy controls ( P=0.003). These data indicate that there is an increased prevalence of CFTR abnormalities in PSC as demonstrated by molecular and functional analyses and that these abnormalities may contribute to the development of PSC in a subset of patients with inflammatory bowel disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.