Whole Transcriptome-Wide Analysis Combined with Summarydata-Based Mendelian Randomization Identifies High-Riskgenes for Cholelithiasis Incidence.

IF 3 3区医学 Q2 GASTROENTEROLOGY & HEPATOLOGY Clinical and Translational Gastroenterology Pub Date : 2025-01-22 DOI:10.14309/ctg.0000000000000800

Xuxu Liu, Heming Wang, Zhihong Xie, Lianghao Li, Yuanhang He, Ziang Meng, Jiachen Li, Jingjing Yu, Zhiwei Du, Yi Zheng, Tianming Liu, Chenjun Hao, Dongbo Xue, Liyi Wang, Enjun Gao

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Abstract

Background: Cholelithiasis is influenced by various factors, including genetic elements identified in genome-wide association studies (GWAS), but their biological functions are not fully understood.

Methods: Analyzing data from the Finngen database with 37,041 cholelithiasis cases and 330,903 controls, this study combined SNP data from GTEx v8 and linkage disequilibrium data from the 1000 Genomes Project. Using the TWAS FUSION protocol and SMR analysis, it investigated the relationship between gene expression and cholelithiasis, employing colocalization tests and conditional analyses to explore causality.

Results: The study identified genes associated with cholelithiasis in the liver and whole blood, such as LINC01595, TTC39B, UGT1A3, with several showing colocalization traits. Notably, RP11-378A13.1 and ADAR were significantly associated with the disease in both tissues.

Conclusion: This research provides insights into the genetic underpinnings of cholelithiasis, highlighting the significant role of gene expression in its development. It establishes new gene associations and identifies potential genetic markers for the disease.

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全转录组分析结合基于汇总数据的孟德尔随机化确定胆石症发病率的高风险基因

背景：胆石症受多种因素影响，包括全基因组关联研究（GWAS）中发现的遗传因子，但其生物学功能尚不完全清楚。方法：分析Finngen数据库37,041例胆结石患者和330,903例对照者的数据，结合GTEx v8的SNP数据和1000基因组计划的连锁不平衡数据。使用TWAS融合方案和SMR分析，研究基因表达与胆石症之间的关系，采用共定位测试和条件分析来探索因果关系。结果：本研究在肝脏和全血中发现了与胆石症相关的基因，如LINC01595、TTC39B、UGT1A3，其中一些基因表现出共定位特征。值得注意的是，RP11-378A13.1和ADAR在两种组织中均与该疾病显著相关。结论：本研究揭示了胆石症的遗传基础，强调了基因表达在其发展中的重要作用。它建立了新的基因关联，并确定了该疾病的潜在遗传标记。

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来源期刊

Clinical and Translational Gastroenterology GASTROENTEROLOGY & HEPATOLOGY-

CiteScore

7.00

自引率

0.00%

发文量

114

审稿时长

16 weeks

期刊介绍： Clinical and Translational Gastroenterology (CTG), published on behalf of the American College of Gastroenterology (ACG), is a peer-reviewed open access online journal dedicated to innovative clinical work in the field of gastroenterology and hepatology. CTG hopes to fulfill an unmet need for clinicians and scientists by welcoming novel cohort studies, early-phase clinical trials, qualitative and quantitative epidemiologic research, hypothesis-generating research, studies of novel mechanisms and methodologies including public health interventions, and integration of approaches across organs and disciplines. CTG also welcomes hypothesis-generating small studies, methods papers, and translational research with clear applications to human physiology or disease. Colon and small bowel Endoscopy and novel diagnostics Esophagus Functional GI disorders Immunology of the GI tract Microbiology of the GI tract Inflammatory bowel disease Pancreas and biliary tract Liver Pathology Pediatrics Preventative medicine Nutrition/obesity Stomach.