2026 年第 3 期 第 21 卷

胆囊胆固醇结石形成机制与遗传易感研究进展

Research progress on the formation mechanism of gallbladder cholesterol stones and genetic susceptibility

作者：李羽涵1闫东杨1林春宇1许英晨2

英文作者：Li Yuhan1 Yan Dongyang1 Lin Chunyu1 Xu Yingchen2

单位：1首都医科大学附属北京同仁医院，北京100730；2首都医科大学附属北京同仁医院普外科，北京100730

英文单位：1Beijing Tongren Hospital Capital Medical University Beijing 100730 China; 2Department of General Surgery Beijing Tongren Hospital Capital Medical University Beijing 100730 China

关键词：胆囊胆固醇结石；遗传易感性；肠道菌群

英文关键词：Gallbladdercholesterolstone;Geneticsusceptibility;Intestinalflora

• 摘要：

• 胆囊胆固醇结石病是一种由遗传与环境因素共同作用的复杂疾病。本文系统阐述了其发病的级联机制，始于肝脏胆固醇代谢失衡与胆汁成分异常，导致胆汁胆固醇过饱和；继而，过饱和胆汁中的胆固醇在黏蛋白凝胶基质中成核，形成胆固醇单水结晶；同时，胆囊平滑肌细胞因吸收过量胆固醇而功能受损，导致胆囊动力下降与胆汁淤滞，为结晶的生长与聚集提供了“温床”。值得注意的是，肠道因素（如肠道菌群失调）亦是胆囊胆固醇结石发病的关键环节。全文重点剖析了三磷酸腺苷结合盒转运蛋白基因、黏蛋白基因、缩胆囊素受体基因等关键基因在多环节中的核心作用，揭示了遗传易感性贯穿于胆囊胆固醇结石形成的始动、成核、生长与调控全过程。

• Gallbladder cholesterol cholelithiasis is a complex disease caused by the combined effects of genetic and environmental factors. This article systematically elaborates its cascading pathogenesis, which initiates with the imbalance of hepatic cholesterol metabolism and abnormal bile composition, leading to cholesterol supersaturation in bile. Subsequently, cholesterol in supersaturated bile nucleates in the mucin gel matrix to form cholesterol monohydrate crystals. Meanwhile, the dysfunction of gallbladder smooth muscle cells induced by excessive cholesterol uptake results in impaired gallbladder motility and bile stasis, which provides a "breeding ground" for crystal growth and aggregation. Notably, intestinal factors such as intestinal dysbiosis are also key links in the pathogenesis of gallbladder cholesterol stones. This article focuses on analyzing the core roles of key genes including adenosine triphosphate-binding cassette transporter genes, mucin genes and cholecystokinin receptor genes in multiple pathological steps, revealing that genetic susceptibility runs through the entire process of initiation, nucleation, growth and regulation in gallbladder cholesterol stone formation.