{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:50:05Z","timestamp":1790394605460,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,4,14]],"date-time":"2024-04-14T00:00:00Z","timestamp":1713052800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Eur J Clin Investigation"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Gallstone disease (GD) is common but remains asymptomatic in most cases. However, gallstones can lead to complications like choledocholithiasis or gallbladder cancer. In this study, we analyse the common genetic risk factor for GD, the p.D19H variant in the sterol transporter <jats:italic>ABCG8<\/jats:italic>, in Polish patients with gallstones and gallbladder cancer.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Three adult cohorts were prospectively recruited: 65 patients with gallbladder cancer, 170 obese individuals scheduled for bariatric surgery and 72 patients who underwent endoscopic retrograde cholangiopancreatography due to recurrent choledocholithiasis. The control cohort consisted of 172 gallstone\u2010free adults. The <jats:italic>ABCG8<\/jats:italic> p.D19H (rs11887534) polymorphism was genotyped using TaqMan assays.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The minor allele frequency (MAF) of the <jats:italic>ABCG8<\/jats:italic> p.D19H polymorphism was significantly (<jats:italic>p<\/jats:italic>\u2009=\u2009.02) higher among cases with either gallstones or gallbladder cancer (MAF\u2009=\u20098.4%) as compared to controls (MAF\u2009=\u20094.0%). The highest frequency of the risk allele was detected in patients with gallbladder cancer (18.5%) and obese patients with GD (17.5%), followed by individuals with choledocholithiasis (13.9%). Notably, the p.19H variant was associated with an increased risk of developing gallbladder cancer (OR 2.76, 95% CI 1.16\u20136.54, <jats:italic>p<\/jats:italic>\u2009=\u2009.01) and an increased risk of GD in obese individuals scheduled for bariatric surgery (OR\u2009=\u20092.70, 95% CI 1.05\u20136.49, <jats:italic>p<\/jats:italic>\u2009=\u2009.03), but did not significantly affect the risk of choledocholithiasis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The <jats:italic>ABCG8<\/jats:italic> p.D19H common risk variant increases the risk of developing gallbladder cancer in Central Europeans and enhances the risk of gallstones in the obese. Carriers of the p.D19H variant might benefit from personalized preventive strategies, particularly regarding gallbladder cancer.<\/jats:p><\/jats:sec>","DOI":"10.1111\/eci.14213","type":"journal-article","created":{"date-parts":[[2024,4,15]],"date-time":"2024-04-15T05:44:31Z","timestamp":1713159871000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["The <i>ABCG8<\/i> polymorphism increases the risk of gallbladder cancer in the general population and gallstones in obese patients from Poland"],"prefix":"10.1111","volume":"54","author":[{"given":"Lukasz","family":"Krupa","sequence":"first","affiliation":[{"name":"Department of Gastroenterology and Hepatology with Internal Disease Unit Teaching Hospital No 1 in Rzesz\u00f3w  Rzesz\u00f3w Poland"},{"name":"Medical Department University of Rzesz\u00f3w  Rzesz\u00f3w 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