Clinical and Translational Gastroenterology最新文献

{"title":"Physical Function as Assessed by the Liver Frailty Index Remains Stable Over Time in Patients With Hepatocellular Carcinoma Treated With Locoregional Therapies.","authors":"Madeleine D Hu, Sy Han Chiou, Molly Delk, Cynthia Fenton, Jennifer C Lai, Michael Li","doi":"10.14309/ctg.0000000000000854","DOIUrl":"10.14309/ctg.0000000000000854","url":null,"abstract":"<p><strong>Introduction: </strong>It is unknown how frailty evolves over time in patients with hepatocellular carcinoma who are treated with locoregional therapies (LRTs).</p><p><strong>Methods: </strong>We conducted a retrospective study of LRT-treated hepatocellular carcinoma patients with Liver Frailty Index (LFI) assessments. Linear mixed-effects modeling was used to assess the impact of time (modeled linearly per month) and other variables on LFI.</p><p><strong>Results: </strong>Of 201 patients enrolled, median baseline LFI was 3.54. LFI did not change significantly over time from study entry ( P = 0.93).</p><p><strong>Discussion: </strong>In our study, LFI remained stable over time after LRT, suggesting that LRT is generally well tolerated.</p>","PeriodicalId":10278,"journal":{"name":"Clinical and Translational Gastroenterology","volume":" ","pages":"e00854"},"PeriodicalIF":3.0,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12180846/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metabolic Dysfunction and Alcohol-Associated Liver Disease: A Narrative Review.","authors":"Nicholas Dunn, Naim Al-Khouri, Ismail Abdellatif, Ashwani K Singal","doi":"10.14309/ctg.0000000000000828","DOIUrl":"10.14309/ctg.0000000000000828","url":null,"abstract":"<p><p>The term steatotic liver disease (SLD) is now used to describe conditions involving fat accumulation in the liver. SLD term includes a spectrum of defined and less defined disorders: metabolic dysfunction-associated SLD (MASLD), alcohol-associated liver disease (ALD), and metabolic and ALD (Met-ALD), where both cardiometabolic risk factors, such as obesity, diabetes, or dyslipidemia, and alcohol consumption function in disease development and progression. Met-ALD is defined as liver disease in men with at least 1 cardiometabolic risk factor who also consume 210-420 g of alcohol per week (approximately 30-60 g per day), whereas for women, it is defined as at least 1 cardiometabolic risk factor in addition to consumption of 140-350 g of alcohol per week (approximately 20-50 g per day). This level of alcohol intake exceeds the thresholds traditionally used to exclude alcohol as a contributing factor in MASLD, but it remains below the levels typically associated with classic ALD. Met-ALD is estimated to affect about 17 million people in the United States It is a unique disease with the risk of cirrhosis, hepatocellular carcinoma, and mortality different from those with MASLD or ALD. Its treatment relies mainly on weight loss, alcohol abstinence, and control of cardiometabolic risk factors. Novel medications such as glucagon-like peptide-1 agonists and fibroblast growth factor s21 analogs may be promising future therapies for the treatment of Met-ALD.</p>","PeriodicalId":10278,"journal":{"name":"Clinical and Translational Gastroenterology","volume":" ","pages":"e00828"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Image-Based Model for Assisting in Diagnosing Malignant Esophageal Lesions During Lugol Chromoendoscopic Examination.","authors":"Mengfei Liu, Zifan Qi, Ren Zhou, Chuanhai Guo, Anxiang Liu, Haijun Yang, Fenglei Li, Liping Duan, Lin Shen, Qi Wu, Zhen Liu, Yaqi Pan, Fangfang Liu, Ying Liu, Huanyu Chen, Zhe Hu, Hong Cai, Zhonghu He, Yang Ke","doi":"10.14309/ctg.0000000000000835","DOIUrl":"10.14309/ctg.0000000000000835","url":null,"abstract":"<p><strong>Introduction: </strong>Image-based diagnostic tools that aid endoscopists to biopsy putative esophageal malignant lesions are essential for ensuring the standardization and quality of Lugol chromoendoscopy. But there is no such model available yet.</p><p><strong>Methods: </strong>We developed a diagnostic model using endoscopic Lugol-unstained lesions (LULs) features and baseline data from 1,099 individuals enrolled from a large-scale population-based ESCC screening cohort. Six hundred three participants from a clinical outpatient cohort were included as the external validation set. High-grade intraepithelial neoplasia and above lesions identified at baseline or within 1 year after screening were defined as outcome. The final model was determined using logistic regression analysis by the Akaike information criterion.</p><p><strong>Results: </strong>The optimal diagnostic model contained the size, irregularity, sharp border of LUL, age, and body mass index of the participant, with the area under the curve of 0.83 (95% confidence interval [CI]: 0.78-0.87) in the development set, 0.81 (95% CI: 0.77-0.86) in the internal validation set, and 0.87 (95% CI: 0.84-0.90) in the external set. This model stratified individuals with LULs into low-risk, moderate-risk, and high-risk groups based on tertiles of predicted probabilities. The high-risk group accounted for <40% participants but enriched 80.8% and 82.7% of high-grade intraepithelial neoplasia and above cases in the development and external validation sets, respectively, achieving detection ratios 16.2 and 11.0 times higher than the low-risk group.</p><p><strong>Discussion: </strong>Our model can help maintain consistency and accuracy in detecting esophageal malignancy through Lugol chromoendoscopy, particularly in primary healthcare units in high-risk rural areas.</p>","PeriodicalId":10278,"journal":{"name":"Clinical and Translational Gastroenterology","volume":" ","pages":"e00835"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101928/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Decreased Subcutaneous Adipose Tissue Correlates With Higher Portal Hypertension and Poor Survival in Patients With Cirrhosis: A Retrospective Binary-Center Study.","authors":"Siwei Yang, Xiuwan Ren, Xiaoqing Guo, Jianan Yu, Lizhen Niu, Yao Niu, Linpeng Zhang, Long Jin","doi":"10.14309/ctg.0000000000000836","DOIUrl":"10.14309/ctg.0000000000000836","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to investigate the impact of hepatic venous portal gradient (HVPG) on body composition (BC) values and the prognostic value of BC value in cirrhotic patients.</p><p><strong>Methods: </strong>A total of 173 cirrhotic patients with HVPG and computed tomography scan were screened retrospectively from a binary-center database. Seven BC values, including skeletal muscle index, subcutaneous adipose tissue index (SATI), deep SATI (dSATI), superficial SATI (sSATI), visceral adipose tissue index, and ratio of visceral adipose tissue index and SATI along with skeletal muscle radiodensity, were analyzed. The correlation analyses and multiple linear regression were used to assess the impact of HVPG on BC values. The cumulative survival rate was assessed, and risk factors of survival were identified by competing risk analysis using Fine-Gray model.</p><p><strong>Results: </strong>Among 173 patients with a mean age of 53.7 ± 10.5 years, there were 111 male patients (64.2%) and 62 female patients (35.8%). In male patients, SATI, dSATI, and sSATI inversely correlated with HVPG, respectively (SATI: rho = -0.227; dSATI: rho = -0.229; sSATI: rho = -0.219; all P < 0.05), especially in patients aged 60 years or younger or with compensated cirrhosis; male patients with clinically significant portal hypertension had a lower SATI, dSATI, sSATI, and skeletal muscle radiodensity than those without clinically significant portal hypertension. After adjusted multiple linear models, male sex, Child-Pugh class B or C, and elevated HVPG contributed to decreased SATI. Multiple competing survival analysis showed a lower SATI (male: <38 cm 2 /m 2 ; female: <23 cm 2 /m 2 ), and Child-Pugh B or C predict mortality.</p><p><strong>Discussion: </strong>Decreased SATI, dSATI, and sSATI were more closely associated with increased HVPG. A lower SATI and Child-Pugh B or C predicted mortality.</p>","PeriodicalId":10278,"journal":{"name":"Clinical and Translational Gastroenterology","volume":" ","pages":"e00836"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-World Trends and Future Projections of the Prevalence of Cirrhosis and Hepatic Encephalopathy Among Commercially and Medicare-Insured Adults in the United States.","authors":"Robert J Wong, Patrick Gagnon-Sanschagrin, Zeev Heimanson, Jessica Maitland, Remi Bellefleur, Annie Guérin, Aaron Samson, Olamide Olujohungbe, Brock Bumpass","doi":"10.14309/ctg.0000000000000823","DOIUrl":"10.14309/ctg.0000000000000823","url":null,"abstract":"<p><strong>Introduction: </strong>Describing cirrhosis and hepatic encephalopathy (HE) burden over time can inform clinical management and resource allocation. Using healthcare claims data, this observational study examined recent trends in the prevalence of cirrhosis and HE and associated healthcare resource utilization among commercially and Medicare-insured adults in the United States.</p><p><strong>Methods: </strong>Data from the MarketScan Commercial Claims and Encounters Database and 100% Medicare Research Identifiable Files were analyzed (2007-2020). Annual prevalence of cirrhosis, HE, overt HE (OHE) hospitalizations, and rifaximin ± lactulose use, and costs per hospitalization per year were calculated. Average year-over-year changes in prevalence of cirrhosis, and HE were estimated. Trends were extrapolated to 2030 using ordinary least-squares regression.</p><p><strong>Results: </strong>From 2007 to 2020, the prevalence of cirrhosis increased by an average of 4.6% year-over-year in the Commercial population and 8.1% in the Medicare population; the prevalence of HE increased by 4.3% and 2.5%, respectively. Rates of OHE hospitalizations decreased from 27.5% to 5.5% (Commercial) and from 26.2% to 9.5% (Medicare), and rates of liver transplantation increased. Average payer costs (Commercial) and provider charges (Medicare) per OHE hospitalization increased (from $40,881 to $77,699 and from $45,913 to $74,894, respectively). Use of rifaximin ± lactulose showed an increasing trend during the observation period, whereas lactulose use declined steadily.</p><p><strong>Discussion: </strong>The healthcare burden of cirrhosis and HE in the United States is increasing. Trends are projected to continue unless action is taken, such as improving medication access and developing policies addressing the contributing factors.</p>","PeriodicalId":10278,"journal":{"name":"Clinical and Translational Gastroenterology","volume":" ","pages":"e00823"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101919/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and Patterns of Opioid Use in Chronic Pancreatitis.","authors":"Anna Evans Phillips, Darwin L Conwell, Shuang Li, Jami L Saloman, Phil A Hart, Evan L Fogel, Santhi Swaroop Vege, Dana K Andersen, William E Fisher, Christopher E Forsmark, Stephen Pandol, Walter G Park, Mark D Topazian, Stephen K Van Den Eeden, Jose Serrano, Liang Li, Dhiraj Yadav","doi":"10.14309/ctg.0000000000000807","DOIUrl":"10.14309/ctg.0000000000000807","url":null,"abstract":"<p><strong>Introduction: </strong>Opioids are used to treat pain in chronic pancreatitis (CP), but little is known about current use patterns. The aim of this study was to characterize the utilization of opioids and associations with clinical characteristics in adult patients with CP.</p><p><strong>Methods: </strong>This cross-sectional analysis used baseline data from participants with definite CP enrolled in a cohort study in the United States (PROspective Evaluation of CP for EpidEmiologic and Translational StuDies). Data on demographics, pain medication use, healthcare utilization, disability, and pain patterns were systematically collected in case report forms while quality of life was assessed with patient-reported outcome instruments. Opioid use was classified according to strength (weak or strong) and frequency (scheduled or as-needed).</p><p><strong>Results: </strong>A total of 681 participants (n = 364, 53% male) were included: 299 (44%) were current opioid users (22% only weak opioids and 22% at least 1 strong opioid). Increasing frequency and severity of pain was associated with increase of weak, strong, as-needed, or scheduled opioids. Neuromodulators were used by ∼40% of participants; increasing use was associated with increasing frequency and severity of pain. On multivariate analysis, independent predictors associated with strength and frequency of current opioid use were pain patterns (odds ratios [ORs] 1.84-8.32 and ORs 1.92-8.52, respectively, P < 0.001) and prior celiac plexus block (OR 3.54, 95% confidence intervals 1.82-6.87 and OR 3.42, 95% confidence intervals 1.76-6.64, respectively). Participants using opioids had higher prevalence of disability, healthcare utilization, and poorer quality of life.</p><p><strong>Discussion: </strong>Opioid use in CP is common and associated with increased pain severity and constancy. These data provide foundational estimates for future trials that can elucidate the complex interactions between patient factors, pain, and interventions.</p>","PeriodicalId":10278,"journal":{"name":"Clinical and Translational Gastroenterology","volume":" ","pages":"e00807"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101912/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Radiographic Identification of Visceroptosis in Patients With Hypermobile Ehlers-Danlos Syndrome With Functional Gastrointestinal Symptoms Compared With Healthy Subjects.","authors":"Yin Chan, Bianca W Chang, Amrit K Kamboj, Yaniv Raphael, Richard Sukov, Ali Rezaie","doi":"10.14309/ctg.0000000000000834","DOIUrl":"10.14309/ctg.0000000000000834","url":null,"abstract":"<p><strong>Introduction: </strong>Visceroptosis is a potential cause of gastrointestinal symptoms in hypermobile Ehlers-Danlos syndrome (hEDS).</p><p><strong>Methods: </strong>We systematically examined the prolapse of abdominal organs below their natural supine position (visceroptosis) during the upright small bowel barium study in healthy and hEDS subjects with irritable bowel syndrome.</p><p><strong>Results: </strong>Comparison of age- and sex-matched healthy (n = 20) and hEDS (n = 10) subjects did not show any significant difference in dynamic movement of the viscera. Subgroup analysis did not demonstrate any correlation between the degree of prolapse, clinical symptoms, and hypermobility clinical (Beighton) scores. The interobserver reliability for 3 of the 4 anatomic landmarks showed \"moderate\" or \"good\" correlation based on their interclass correlation coefficients.</p><p><strong>Discussion: </strong>Patients with hEDS do not appear to have a significantly increased incidence of visceroptosis.</p>","PeriodicalId":10278,"journal":{"name":"Clinical and Translational Gastroenterology","volume":" ","pages":"e00834"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nomogram Prediction for Gastric Cancer Development.","authors":"Joo Hyun Lim, Areum Han, Soo-Jeong Cho, Seokyung Hahn, Sang Gyun Kim","doi":"10.14309/ctg.0000000000000833","DOIUrl":"10.14309/ctg.0000000000000833","url":null,"abstract":"<p><strong>Introduction: </strong>Helicobacter pylori ( Hp ) and gastric atrophy represent significant risk factors for gastric cancer (GC). Nevertheless, to date, no nomogram has been developed to predict GC based on the specific combination of risk factors present in individual cases.</p><p><strong>Methods: </strong>A retrospective cohort study was conducted using health screening data collected between 2003 and 2018. Subjects with positive results for anti- Hp antibody were enrolled. Individuals were classified into 4 groups: low-B (low titer without atrophy), high-B (high titer without atrophy), high-C (high titer with atrophy), and low-C (low titer with atrophy). Nomogram prediction models were developed for overall GCs as well as intestinal and diffuse cancers, with each type considered a competing event, by using both Cox proportional and subdistribution hazard models. Prediction performance was evaluated using the concordance index (c-index) and the area under the curve through 10-fold cross-validation.</p><p><strong>Results: </strong>During a median follow-up period of 5.7 years, 231 new GC cases developed among the total cohort of 28,311 subjects, including 159 intestinal type, 68 diffuse type, and 4 cases of unknown type. Multivariable analyses indicated that age, body mass index, family history, smoking, and classification into the high-C or low-C group were significant predictors of GC. The nomograms for intestinal type, diffuse type, and total GC demonstrated area under the curve values of 0.82, 0.62, and 0.75, respectively, and c-indices of 0.85, 0.54, and 0.76, respectively.</p><p><strong>Discussion: </strong>The nomograms for GC prediction would be useful in identifying high-risk individuals, particularly for intestinal type. This would facilitate the implementation of personalized eradication and intensive screening strategies to target those at higher risk for GC.</p>","PeriodicalId":10278,"journal":{"name":"Clinical and Translational Gastroenterology","volume":" ","pages":"e00833"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101921/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Double Band Ligation-Assisted Endoscopic Submucosal Resection for Rectal Neuroendocrine Tumors: Comparison With Conventional Endoscopic Mucosal Resection With Ligation (With Video).","authors":"Yuan Gao, Liansong Ye, Xu Li, Long He, Bin Yu, Wei Liu, Yuwan Cao, Liuxiang Chen, Yi Mou, Ou Chen, Jia Xie, Jiang Du, Qiongying Zhang, Bing Hu","doi":"10.14309/ctg.0000000000000830","DOIUrl":"10.14309/ctg.0000000000000830","url":null,"abstract":"<p><strong>Introduction: </strong>Based on endoscopic mucosal resection with ligation (EMR-L), we developed double band ligation-assisted endoscopic submucosal resection (ESR) for complete resection of small submucosal rectal neuroendocrine tumors (NETs). Both procedures use a multiband device to perform resection, with the only difference being that ESR adds an additional band to obtain deeper resection margin. The aim of this retrospective study was to validate its feasibility, safety, and effectiveness compared with EMR-L.</p><p><strong>Methods: </strong>This retrospective study included consecutive patients with small (≤10 mm) suspected submucosal rectal NETs who underwent ESR (n = 45) or EMR-L (n = 26) between June 2018 and October 2023 at West China Hospital. En bloc resection rate, complete resection rate, procedure time, margin distance, and adverse events were compared between 2 groups.</p><p><strong>Results: </strong>En bloc resections were achieved in all patients. The complete resection rate of ESR was higher than EMR-L (100% vs 88.5%, P = 0.045). The vertical margin distance and lateral margin distance were significantly longer in ESR group than EMR-L group (vertical margin distance 782.31 ± 359.45 μm vs 363.84 ± 222.78 μm, P < 0.001; and lateral margin distance 4,205.75 ± 2,167.43 μm vs 3,162.94 ± 1,419.22 μm, P = 0.008, respectively). There were no significant differences in procedure time, adverse events, postprocedural hospital stay, or medical cost between 2 groups. In addition, there was no evidence of recurrence or metastasis during the follow-up.</p><p><strong>Discussion: </strong>ESR seems to be safe and effective for complete resection of small submucosal rectal NETs. Larger, multicenter, prospective studies are needed to further assess this technique.</p>","PeriodicalId":10278,"journal":{"name":"Clinical and Translational Gastroenterology","volume":" ","pages":"e00830"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143447874","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Whole Transcriptome-wide Analysis Combined With Summary Data-Based Mendelian Randomization Identifies High-Risk Genes for Cholelithiasis Incidence.","authors":"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","doi":"10.14309/ctg.0000000000000800","DOIUrl":"10.14309/ctg.0000000000000800","url":null,"abstract":"<p><strong>Introduction: </strong>Cholelithiasis is influenced by various factors, including genetic elements identified in genomewide association studies, but their biological functions are not fully understood.</p><p><strong>Methods: </strong>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 disequilibriums data from the 1000 Genomes Project. Using the Transcriptomewide Association Studies FUSION protocol and summary data-based Mendelian randomization analysis, it investigated the relationship between gene expression and cholelithiasis, using colocalization tests and conditional analyses to explore causality.</p><p><strong>Results: </strong>The study identified genes associated with cholelithiasis in the liver and whole blood, such as LINC01595, TTC39B, and UGT1A3, with several showing colocalization traits. Notably, RP11-378A13.1 and adenosine deaminase acting on RNA (ADAR) were significantly associated with the disease in both tissues.</p><p><strong>Discussion: </strong>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.</p>","PeriodicalId":10278,"journal":{"name":"Clinical and Translational Gastroenterology","volume":" ","pages":"e00800"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}