遗传因素在胆固醇结石发生发展中的作用

涂昭玮; 赵礼金

doi:10.12449/JCH251035

遗传因素在胆固醇结石发生发展中的作用

DOI: 10.12449/JCH251035

涂昭玮¹,
赵礼金^2, , ,

1.
遵义医科大学第一临床学院，贵州遵义 563000
2.
遵义医科大学附属医院消化病医院，遵义医科大学附属医院普通外科，贵州遵义 563000

基金项目:

贵州省科技计划项目 (Qiankehe Foundation ［2020］1Y302)

利益冲突声明：本文不存在任何利益冲突。

作者贡献声明：涂昭玮负责查找文献，撰写和修改论文；赵礼金负责拟定写作思路，指导文章撰写，修改论文并最后定稿。

详细信息

通信作者:
赵礼金， lijin.zhao@zmu.edu.cn （ORCID： 0000-0002-7741-5074）

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出版历程
- 收稿日期: 2025-03-10
- 录用日期: 2025-05-12
- 出版日期: 2025-10-25

Role of genetic factors in the development and progression of cholesterol gallstones

Zhaowei TU¹,
Lijin ZHAO^{2
, ,
,}

1.
The First Clinical Institute，Zunyi Medical University，Zunyi，Guizhou 563000，China
2.
Department of General Surgery，Digestive Disease Hospital，Affiliated Hospital of Zunyi Medical University，Zunyi，Guizhou 563000，China

Research funding:

The Department of Science and Technology of Guizhou Province (Qiankehe Foundation ［2020］1Y302)

More Information

Corresponding author: ZHAO Lijin， lijin.zhao@zmu.edu.cn （ORCID： 0000-0002-7741-5074）

摘要

摘要: 胆石症是胆道系统常见的疾病，受到环境和遗传因素共同影响。随着饮食方式的改变，胆石症中常见的胆固醇结石（CGS）比例日益增加。研究发现，遗传因素在CGS的形成过程中起至关重要的作用。CGS的形成主要依赖两个关键环节：一是胆汁中胆固醇过饱和，二是黏蛋白促进胆固醇结晶成核。这两个过程涉及多种蛋白质的调控。某些基因的变异会影响胆固醇的转运效率，甚至改变结晶成核的速率，从而影响结石的形成。本文重点探讨与胆固醇转运和晶体成核相关的关键基因及其突变对CGS形成的影响，有助于深入理解CGS的遗传学机制，还可能为未来的临床治疗提供新的靶点。
- 胆石症 /
- 疾病遗传易感性 /
- 高胆固醇血症Ⅱ型 /
- 突变
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.
- Cholelithiasis /
- Genetic Predisposition to Disease /
- Hyperlipoproteinemia Type Ⅱ /
- Mutation

HTML全文

图 1 CGS形成的遗传相关机制示意图

Figure 1. Schematic diagram of the genetic mechanism of cholesterol gallstones formation

下载: 全尺寸图片幻灯片

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