基于多芯片关节分析的炎症性肠病特征基因和机器预测模型的构建
Yan Chaosheng1,2, Sun Haowen2, Rao Jingjing1,2
1Department of Gastroenterology, Affiliated Hospital of Jiangnan University, 214122, Wuxi city, Jiangsu Province, China.
Journal of translational medicine
|August 20, 2025
概括
这项研究确定了四个主要的血液生物标志物 (LOC389023,DUOX2,LCN2,DEFA6) 用于使用机器学习早期检测炎症性肠病 (IBD),从而提高了诊断潜力.
科学领域:
- 生物标志物发现
- 计算生物学
- 免疫学
背景情况:
- 炎症性肠病 (IBD) 是一种慢性炎症性疾病,其病因不明,因此存在诊断上的挑战.
- 早期检测和外周血液生物标志物检测对于IBD治疗至关重要.
- 目前的IBD诊断缺乏确定的非侵入性标志物.
研究的目的:
- 使用机器学习技术开发IBD的诊断模型.
- 确定用于早期IBD检测的新型周围血液生物标志物.
- 探索与IBD生物标志物相关的免疫路径.
主要方法:
- 使用多芯片联合分析方法与机器学习算法 (LASSO,SVM,RF) 和人工神经网络 (ANN).
- 开发了一种结合SHAP模型的IBD诊断模型,用于特征解释.
- 对差异表达基因进行基因本体学 (GO) 和KEGG通路丰富分析.
- 检查了已识别的基因和免疫细胞群之间的关系.
主要成果:
- 确定了四个关键的IBD生物标志物:LOC389023,DUOX2,LCN2和DEFA6.
- 这些生物标志物与免疫系统调节和微生物改变有关.
- 丰富的途径包括抗菌和IL-17信号;M1巨细胞显示稳定的差异变化.
结论:
- 在IBD中,LOC389023,DUOX2,LCN2和DEFA6基因的差异表达与免疫效应有关.
- 与ANN相比,机器学习模型对IBD的诊断性能更好.
- 这些发现为临床IBD诊断,向治疗和预后评估提供了基础.
相关概念视频
01:30Inflammatory Bowel Disease II: Crohn's Disease
382
Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
382
01:27Inflammatory Bowel Disease I: Ulcerative Colitis
321
Introduction
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
321
01:30Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy
419
Various diagnostic tests are employed in the diagnostic process for Inflammatory Bowel Disease (IBD), particularly to differentiate between Crohn's disease and ulcerative colitis.
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
419
01:11Genome-wide Association Studies-GWAS
14.1K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
14.1K
01:29Inflammatory Bowel Disease IV: Pharmacological Management
189
Upon diagnosis, managing Inflammatory Bowel Disease (IBD) involves addressing several crucial aspects. The primary goals include resting the bowel, correcting malnutrition, and providing symptomatic relief. Resting the bowel may consist of medications to reduce inflammation and promote healing. Correcting malnutrition is essential, often requiring dietary adjustments and nutritional supplements. Symptomatic relief aims to ease pain, diarrhea, and other discomforts in IBD.
Pharmacologic...
Pharmacologic...
189