Role of genetic factors in the development and progression of cholesterol gallstones
- VernacularTitle:遗传因素在胆固醇结石发生发展中的作用
- Author:
Zhaowei TU
1
;
Lijin ZHAO
2
Author Information
- Publication Type:Review
- Keywords: Cholelithiasis; Genetic Predisposition to Disease; Hyperlipoproteinemia Type Ⅱ; Mutation
- From: Journal of Clinical Hepatology 2025;41(10):2195-2200
- CountryChina
- Language:Chinese
- Abstract: Gallstone disease is a common disease of the biliary system， which is jointly affected by environmental and genetic factors. With the change in dietary patterns， there has been a continuous increase in the the proportion of patients with cholesterol gallstones （CGS）， which is a common type of gallstone disease. Studies have shown that genetic factors play a crucial role in the formation of CGS. The formation of CGS mainly depends on two key links of the supersaturation of cholesterol in bile and the presence of mucin that promotes the nucleation of cholesterol crystals. These two processes involve the regulation of multiple proteins. Variations in certain genes can affect the efficiency of cholesterol transport and even change the rate of crystallization and nucleation， thereby influencing the formation of gallstones. This article mainly discusses the key genes associated with cholesterol transport and crystal nucleation， as well as the impact of their mutations on the formation of CGS， in order to gain a deeper understanding of the genetic mechanism of CGS and provide new targets for future clinical treatment.
