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    2. Viszeralmedizin NRW 2026. 192. Jahrestagung der Niederrheinisch-Westfälischen Gesellschaft für Chirurgie, 34. Jahrestagung der Gesellschaft für Gastroenterologie
    3. Genetic predisposition increases the risk of gallstones in patients with PSC: Single center, prospective analysis
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Viszeralmedizin NRW 2026. 192. Jahrestagung der Niederrheinisch-Westfälischen Gesellschaft für Chirurgie, 34. Jahrestagung der Gesellschaft für Gastroenterologie


18.-19.06.2026
Dortmund

Meeting Abstract

Genetic predisposition increases the risk of gallstones in patients with PSC: Single center, prospective analysis

B. Kruk - Centre for Preclinical Research, Medical University of Warsaw, Warsaw, Poland
S. N. Weber - Department of Medicine II, University Hospital Saarland, Homburg, Germany
H. H. Schmidt - Department of Gastroenterology, Hepatology and Transplant Medicine, University of Duisburg-Essen, Essen, Germany
F. Lammert - Center for Health Research Economics Hannover (CHERH), Hannover Medical School, Hannover, Germany
P. Milkiewicz - Liver and Internal Medicine Unit, Medical University of Warsaw, Warsaw, Poland
M. Krawczyk - Department of Gastroenterology, Hepatology and Transplant Medicine, University of Duisburg-Essen, Essen, Germany

Text

Background and objective: Gallstone disease (GD) is common in primary sclerosing cholangitis (PSC), affecting up to 25% of patients (Said et al. J Hepatol 2008). The development of GD is linked to chronic cholestasism disturbances in bile acid homeostasis, and impaired gallbladder motility which are all frequent in PSC (Cazzagon et al. J Hep. Rep. 2022). Here, we investigate the prevalence of GD in a large PSC cohort and assess both clinical and genetic risk factors, including the common polymorphism in the hepatobiliary sterol transporter ABCG8.

Method: Prospectively we recruited 663 adult patients with PSC (218 women, age 18–74 years). Data on GD, cholecystectomy and gallbladder cancer were extracted from clinical records, abdominal sonography, and/or MRI. The ABCG8 p.D19H (rs11887534) polymorphism was genotyped using TaqMan assays.

Result: Among 663 patients, a total of 93 (14%) had history of GD: sixty-six had gallstones and gallbladder in situ, whereas 27 had been cholecystectomised before inclusion. Six patients were diagnosed with gallbladder cancer (three before inclusion and three during follow-up). The ABCG8 p.D19H variant was associated with an approximately 2-fold increased risk of gallstones (OR=2.06; 95% CI, 1.13–3.75; P=0.018). Among non-genetic risk factors, GD was associated with age (P<0.001), but not with BMI, sex, or the presence of ulcerative colitis (all P>0.05). In multivariate analysis, both the ABCG8 p.D19H polymorphism (P=0.015) and age (P<0.001) remained independently associated with GD. One of six patients with gallbladder cancer was heterozygous for the transporter variant.

Summary: GD-PSC is multifactorial condition more common in older patients and those with genetic predisposition. These results further support the use of ursodexycholic acid in PSC to mitigate the GD risk and its complications in predisposed patients.