Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with PSC

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BACKGROUND/AIMS: Primary sclerosing cholangitis (PSC)

is a progressive cholestatic disease commonly associated with inflammatory

bowel disease (IBD) and characterized by fibrosing inflammatory destruction of

bile ducts. The histological features in the liver of

PSC patients are similar to those observed in cystic fibrosis (CF). Our aim was to study whether variants in the CFTR gene are

associated with the occurrence and/or evolution of PSC. METHODS:

PSC patients (n=140) were genotyped for F508del, the TGmTn variants, and four

additional polymorphic loci (1001+11 C>T, M470V, T854T and Q1463Q), and

compared to 136 matched healthy controls. RESULTS: The

1540G-allele, encoding V470, was less frequent in PSC (52%) than in controls

(64%, p=0.003), and was associated with protection against PSC in individuals

without IBD (OR 0.25, 95% CI 0.12-0.52, p=0.0002). Also

TG11-T7 was less frequent in PSC (53%) than in controls (61%, p=0.04), this

haplotype was associated with reduced risk for PSC (OR 0.34, 95% CI 0.17-0.70,

p=0.003) in individuals without IBD. CONCLUSIONS: In

this cohort of PSC patients, several CFTR-variants affecting the functional

properties of the CFTR protein seem to offer protection against the development

of PSC, confirming our hypothesis that CFTR might be implicated in the

pathogenesis of PSC.

http://www.ncbi.nlm.nih.gov/pubmed/18992954

Barb in Texas - Together in the Fight - Whatever it

Takes!

Son Ken (34) UC 91 PSC 99, LTX 6/21 & 6/30 2007

@ Baylor/Dallas