Found this - PSC & CF

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Hum Genet. 2003 Aug;113(3):286-92.

Epub 2003 Jun 3.

Increased

prevalence of CFTR mutations and variants and decreased chloride secretion in

primary sclerosing cholangitis.

Sheth S, Shea JC, Bishop MD, Chopra S, Regan MM, Malmberg E, C, Ricci R, Tsui LC, Durie PR, Zielenski J, Freedman SD.

Department of Medicine, Beth Israel Deaconess Medical Center/Harvard Medical School, Dana

532, 330 Brookline Avenue, Boston, MA 02215, USA.

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.

PMID: 12783301 [PubMed - indexed for MEDLINE]

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Ken (32) UC 91 - PSC 99