在患有1型糖尿病的中国儿童中CTSG多态性
Jiaci Li1,2,3, Mingying Zhang1,4, Shuyue Zhang1,5
1Tianjin Children's Hospital (Children's Hospital, Tianjin University), Tianjin, 300074, China.
Journal of tropical pediatrics
|August 9, 2024
概括
基因变异在Cathepsin G (CTSG) 与中国儿童的1型糖尿病 (T1DM) 风险有关. 更高的CTSG表达和rs2236742多态可能预测T1DM易感性.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
背景情况:
- 甲素G (CTSG) 对于免疫调节至关重要,并与1型糖尿病 (T1DM) 的发展有关.
- 影响T1DM易感性的遗传因素在不同人群之间有所不同.
研究的目的:
- 调查中国人口中CTSG遗传多态和T1DM易感性之间的关联.
- 为了评估T1DM患者的血清CTSG表达水平.
主要方法:
- 与酶相关的免疫吸收试验 (ELISA) 检测血清中CTSG表达.
- 聚合酶链反应 (PCR) 和桑格测序用于基因型定型CTSG SNPs (rs2236742和rs2070697).
- 与141名T1DM患者和200名健康对照进行的病例控制研究.
主要成果:
- 与对照组相比,T1DM患者的血清CTSG表达显著增加.
- CTSG rs2236742多态 (C和T基因) 与T1DM有显著的关联.
- 在CTSG rs2070697多态性方面没有发现任何显著的关联.
结论:
- CTSG rs2236742等位基因 (C/T) 与中国儿童的T1DM易感性有关.
- CTSG rs2236742可以作为预测T1DM风险的潜在生物标志物.
- 血清中CTSG水平升高与T1DM有关.
相关概念视频
Glucose Transporters
22.6K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
22.6K
Diabetes Mellitus: Type 2 and Gestational
2.3K
Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
2.3K
Diabetes Mellitus: Overview and Type I Subtype
2.5K
Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
2.5K
Comparing Copy Number Variations and SNPs
17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Translation
141.8K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
141.8K
Pathophysiology of Diabetes
911
Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
911


