Genetic Polymorphisms with IBD Don't Confer Risk for PSC

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Genetic

Polymorphisms Associated With Inflammatory Bowel Disease Do Not Confer Risk for

Primary Sclerosing Cholangitis

Authors:

Karlsen, Tom H.; Hampe, Jochen; Wiencke, e; Schrumpf,

; Thorsby, ; Lie, Benedicte A.; Broomé, Ulrika; Schreiber,

Stefan; Boberg, Kirsten Muri

Source: The American

Journal of Gastroenterology, January 2007 Publisher: Blackwell Publishing

Abstract:

OBJECTIVES:  Approximately 80% of patients with primary sclerosing cholangitis (PSC) of

Northern European origin have concurrent inflammatory bowel disease (IBD). The majority have ulcerative colitis, but there is also an

association with Crohn's colitis. The pathogenetic link between PSC and IBD is unknown. We aimed to assess whether genetic risk factors in PSC can

be identified on the basis of known IBD susceptibility genes and the shared

PSC-IBD phenotype.

METHODS: CARD15, TLR-4, CARD4,

SLC22A4, SLC22A5, DLG5,

and MDR1 genes were genotyped in

a large cohort of 365 Scandinavian PSC patients and 368 healthy controls using TaqMan technology.

 

RESULTS:   No significant

association between any of the investigated genetic IBD risk variants and

overall susceptibility to PSC was observed. Apart from

a tendency toward an increased carrier frequency of the mutant CARD15 alleles in PSC patients with

concurrent Crohn's disease as compared with healthy controls (15.6%vs 9.0%, P=

0.22), no association with any of the polymorphisms investigated was evident

even when considering only PSC patients with concurrent IBD.

CONCLUSION:  It seems unlikely

that IBD-associated polymorphisms in the CARD15,

TLR-4, CARD4, SLC22A4,

SLC22A5, DLG5, and MDR1

genes confer susceptibility to PSC. The current

knowledge of genetic risk factors in IBD may not contribute to our

understanding of molecular mechanisms involved in the pathogenesis of PSC or

the IBD phenotype in PSC.   (Am J Gastroenterol

2007;102:115-121)

Document Type: Research article   DOI: 10.1111/j.1572-0241.2006.00928.x

Affiliations: 1: Medical Department 2: Institute of

Immunology, Rikshospitalet-Radiumhospitalet Medical

Center, Oslo, Norway 3: Institute for

Clinical Molecular Biology, Christian-Albrechts

University, Kiel, Germany

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