Genetics of Gallstone Disease and Their Clinical Significance: A Narrative Review  

作　　者：Christopher J.Costa Minh Thu T.Nguyen Haleh Vaziri George Y.Wu 

机构地区：[1]Department of Medicine,University of Connecticut Health Center,Farmington,CT,USA [2]Division of Gastroenterology and Hepatology,University of Connecticut Health Center,Farmington,CT,USA

出　　处：《Journal of Clinical and Translational Hepatology》2024年第3期316-326,共11页临床与转化肝病杂志（英文版）

摘　　要：Gallstone(GS)disease is common and arises from a combination of genetic and environmental factors.Although genetic abnormalities specifically leading to cholesterol GSs are rare,there are clinically significant gene variants associated with cholesterol GSs.In contrast,most bilirubin GSs can be attributed to genetic defects.The pathogenesis of cholesterol and bilirubin GSs differs greatly.Cholesterol GSs are notably influenced by genetic variants within the ABC protein superfamily,including ABCG8,ABCG5,ABCB4,and ABCB11,as well as genes from the apolipoprotein family such as ApoB100 and ApoE(especially the E3/E3 and E3/E4 variants),and members of the MUC family.Conversely,bilirubin GSs are associated with genetic variants in highly expressed hepatic genes,notably UGT1A1,ABCC2(MRP2),ABCC3(MRP3),CFTR,and MUC,alongside genetic defects linked to hemolytic anemias and conditions impacting erythropoiesis.While genetic cases constitute a small portion of GS disease,recognizing genetic predisposition is essential for proper diagnosis,treatment,and genetic counseling.

关 键 词：GALLSTONES CHOLELITHIASIS ATP-binding cassette transporters ABCG8 protein Human UDP-glucuronosyltransferase A1 

分 类 号：R575[医药卫生—消化系统]