{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T19:21:24Z","timestamp":1789068084369,"version":"build-2803163510"},"reference-count":41,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,5,9]],"date-time":"2018-05-09T00:00:00Z","timestamp":1525824000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Eur J Clin Investigation"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Gallstone disease (<jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content>) belongs to the most frequent disorders in gastroenterology and causes high costs in our health\u2010care systems. Gallstones are uncommon in children but frequent in adults, in particular in women, and are triggered by exogenous risk factors. Here, we summarize the current knowledge concerning the contribution of inherited predisposition to gallstone risk.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>In this review, we present the current data and recent research on the genetics of gallstone disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Several <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content>\u2010predisposing gene variants have been reported, with most prominent effects being conferred by a common variant (p.D19H) of the hepatic and intestinal cholesterol transporter <jats:styled-content style=\"fixed-case\">ABCG<\/jats:styled-content>5\/G8. A smaller group of patients might develop gallstones primarily due low phosphatidylcholine concentrations in bile as a result of loss\u2010of\u2010function mutations of the <jats:styled-content style=\"fixed-case\">ABCB<\/jats:styled-content>4 transporter (low phospholipid\u2010associated cholelithiasis syndrome). Regardless of the origin, the risk factors for gallstones lead to the supersaturation of bile with insoluble compounds, in particular cholesterol. As result, cholesterol stones develop and present the most frequent type of gallstones. Laparoscopic cholecystectomy with low morbidity and mortality is currently the most common and effective method for the therapy of symptomatic gallbladder stones.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Gallstone disease represents a multifactorial condition and previous studies have identified the major genetic contributors to gallstone formation. The increasing knowledge about the pathomechanisms of hepatobiliary metabolism and <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> as well as the identification of additional risk factors might help to overcome the current invasive therapy by specific lifestyle intervention and precise molecular treatment.<\/jats:p><\/jats:sec>","DOI":"10.1111\/eci.12935","type":"journal-article","created":{"date-parts":[[2018,4,10]],"date-time":"2018-04-10T23:37:38Z","timestamp":1523403458000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":74,"title":["Genetics of gallstone disease"],"prefix":"10.1111","volume":"48","author":[{"given":"Charlotte","family":"Rebholz","sequence":"first","affiliation":[{"name":"Department of Medicine II Saarland University Medical Center Homburg 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