相关实验视频
Updated: Jun 2, 2025

03:36
Development of Compendium for Esophageal Squamous Cell Carcinoma
Published on: April 12, 2024
373
在中国人群中,Activin A受体1C型单核酸多态与食道状细胞癌风险相关
Si-Yun Lin1,2, Hou Huang2, Jin-Jie Yu1
1Department of Thoracic Surgery, Zhongshan Hospital Affiliated to Fudan University, Shanghai 200032, China.
World journal of gastrointestinal oncology
|January 16, 2025
概括
ACVR1C基因中的单核酸多态 (SNP) 与中国汉族人群的食道状细胞癌 (ESCC) 风险有关. 特定的ACVR1C SNP可能为早期ESCC检测和治疗提供目标.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 转化生长因子-β (TGF-β) 超级家族与瘤进展和转移有关.
- 活性蛋白A受体1C型 (ACVR1C),TGF-β型I受体,通过连接体相互作用影响瘤发生.
研究的目的:
- 研究 ACVR1C 基因中单核酸多态 (SNP) 与食道状细胞癌 (ESCC) 的易感性之间的关联.
- 这项研究的重点是中国汉族人口.
主要方法:
- 一项基于医院的队列研究包括1043名ESCC患者和1143名健康对照.
- 五个ACVR1C SNP (rs4664229,rs4556933,rs77886248,rs77263459,rs6734630) 通过结合检测反应方法进行了基因型鉴定.
- 统计分析包括哈迪-韦恩伯格平衡,遗传模型,分层分析,链接不平衡和单种类型分析.
主要成果:
- ACVR1C rs4556933 GA突变与ESCC风险降低有关.
- ACVR1C rs77886248 TA突变显示风险增加,特别是在老年男性吸烟者中.
- 哈普洛型分析显示,ACVR1C Trs4664229Ars4556933Trs77886248Crs77263459Ars6734630增加了ESCC风险,而Trs4664229Grs4556933Trs77886248Crs77263459Ars6734630与更低的敏感性有关.
结论:
- ACVR1C rs4556933和rs77886248 SNPs与中国汉族人口中ESCC易感性有显著的关联.
- 这些发现表明,ACVR1C SNPs可以作为ESCC早期诊断和治疗点的潜在生物标志物.
相关概念视频
Single Nucleotide Polymorphisms-SNPs
13.9K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
13.9K
Genome-wide Association Studies-GWAS
12.4K
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...
12.4K
Comparing Copy Number Variations and SNPs
17.1K
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%...
17.1K
Rous Sarcoma Virus (RSV) and Cancer
4.9K
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
4.9K
Non-LTR Retrotransposons
11.4K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
11.4K
Cancer Prevention
6.0K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.0K

