对骨质疏松症核心基因的查和分析基于生物信息学分析和机器学习算法
Yongxia Lu1, Wei Wang1, Baiyuan Yang2
1Department of Endocrinology and Metabolism, Chengdu Seventh People's Hospital, Chengdu, China.
Indian journal of orthopaedics
|July 1, 2024
概括
这项研究使用生物信息学和机器学习确定了三种核心基因 (ADAMTS5,COL10A1,KIAA0040) 和四种与骨质疏松症相关的核心微RNA (miRNA). COL10A1对骨质疏松症具有很高的诊断价值.
科学领域:
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
- 分子生物学分子生物学
背景情况:
- 骨质疏松症是一个重要的公共卫生问题,其特点是骨质减少和骨折风险增加.
- 识别骨质疏松病变的关键分子参与者对于开发有效的诊断和治疗策略至关重要.
研究的目的:
- 通过综合生物信息学分析和机器学习,识别与骨质疏松症相关的核心基因和微RNA (miRNAs).
- 评估在骨质疏松症中识别的核心基因的诊断潜力.
主要方法:
- 从基因表达总量 (GEO) 数据库中利用mRNA表达特征进行培训和验证.
- 进行了差异基因表达分析,加权基因共同表达网络分析 (WGCNA) 和途径丰富分析 (KEGG,GO,GSEA).
- 应用机器学习算法 (LASSO,SVM-RFE,RF) 选核心基因和预测的miRNA,通过定量实时PCR (qPCR) 进行验证.
主要成果:
- 通过WGCNA确定了1280个差异表达基因和215个关键模块基因.
- 选了三个核心基因 (ADAMTS5,COL10A1,KIAA0040),其中的COL10A1对骨质疏松症具有高诊断价值.
- 确定了四种核心miRNAs (has-miR-148a-3p,has-miR-195-3p,has-miR-148b-3p,has-miR-4531),qPCR证实骨质疏松症患者的has-miR-195-3p,has-miR-148b-3p和has-miR-4531的表达增加.
结论:
- 生物信息学和机器学习方法在识别与骨质疏松症相关的核心基因和miRNA方面非常有效.
- 已识别的核心基因和miRNAs,特别是COL10A1和特定miRNAs,有可能作为骨质疏松症诊断和治疗点的生物标志物.
更多相关视频
07:12Semiautomated Longitudinal Microcomputed Tomography-based Quantitative Structural Analysis of a Nude Rat Osteoporosis-related Vertebral Fracture Model
Published on: September 28, 2017
8.2K
07:15Machine Learning Algorithms for Early Detection of Bone Metastases in an Experimental Rat Model
Published on: August 16, 2020
6.8K
相关概念视频
01:17Hormones and Bone Tissue
2.6K
The endocrine system produces and secretes hormones, which interact with the skeletal system. These hormones control bone growth, maintain bone once it is formed, and remodel it.
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
2.6K
01:31Osteoclasts in Bone Remodeling
2.9K
Osteoclasts are cells responsible for bone resorption and remodeling. They originate from hematopoietic progenitor cells present in the bone marrow. Numerous progenitor cells fuse to form multinucleated cells, each with 10-20 nuclei. A single osteoclast has a diameter of 150 to 200 µM. These cells have ruffled borders that break down the underlying bone tissue and release minerals such as calcium into the blood in bone resorption. Osteoclasts cling to bones with their ruffled edges during...
2.9K
01:18Classification of Bones
5.4K
The bones of the human skeletal system are of varied shapes, sizes, and functions. They can be classified based on their shape and function into four major classes: long bones, short bones, flat bones, and irregular bones. Some classifications include a fifth type, the sesamoid bones, as a separate class, whereas others categorize them under short bones.
Long and Short Bones
The appendicular skeleton, particularly the upper and lower limbs, is primarily made of long and short bones. The...
Long and Short Bones
The appendicular skeleton, particularly the upper and lower limbs, is primarily made of long and short bones. The...
5.4K
01:40Bone Remodeling
38.3K
Bone remodeling is a continuous and balanced process of bone resorption by osteoclasts and bone formation by osteoblasts. In adults, it helps maintain bone mass and calcium homeostasis. While mechanical stress can stimulate turnover as part of the normal maintenance and reparative process, several hormones also regulate bone remodeling.
38.3K
02:46Genetic Screens
4.9K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
4.9K
01:29Bone Disorders
3.5K
Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
3.5K