缺氧诱导因子通路中的遗传变异与结直肠癌风险和免疫透相关
Mengfan Guo1,2, Jie Lin3, Xiangming Cao4
1Department of Oncology, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.
Journal of cellular and molecular medicine
|November 23, 2023
概括
缺氧相关基因的遗传变异,特别是EPAS1,与结直肠癌风险有关. EPAS1还影响瘤免疫细胞的透,这表明它有可能成为癌症易感性和免疫状况的生物标志物.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 免疫学 免疫学 免疫学
背景情况:
- 缺氧诱导因子 (HIF) 途径在瘤发生和免疫调节中至关重要.
- 缺少对低氧相关基因中的遗传变异及其与结直肠癌 (CRC) 风险和瘤免疫性相关的系统性表征.
研究的目的:
- 调查低氧相关基因中的遗传变异与CRC风险之间的关联.
- 探索低氧相关基因与CRC中的免疫细胞透之间的关系.
主要方法:
- 后勤回归分析用于评估中国,日本和欧洲人群中的遗传变异和CRC风险.
- 瘤免疫估计资源 (TIMER) 用于预测瘤免疫透和瘤免疫透之间的关系.
主要成果:
- 在EPAS1中,一个特定的变异,rs34533650,与CRC风险有显著的关联,并在独立种群中得到验证.
- 与EPAS1相关的基因在与免疫相关的途径中得到了丰富.
- EPAS1拷贝数变化 (CNV) 和表达水平与CRC中的免疫细胞透相关.
结论:
- 缺氧相关基因的遗传变异,特别是EPAS1,有助于结直肠癌风险.
- EPAS1可能是结直肠癌易感性和免疫状况的潜在预测因素.
相关概念视频
Regulation of Angiogenesis and Blood Supply
2.6K
Rapidly dividing tumors, embryos, and wounded tissues require more oxygen than usual, lowering the oxygen concentration in the blood. At low oxygen or hypoxic conditions, an oxygen-sensitive transcription factor called the hypoxia-inducible factor 1 or HIF1 is activated. HIF1 is a dimeric protein of alpha (ɑ) and beta (β) subunits. Under optimal oxygen conditions, HIF1β is present in the nucleus while HIF1ɑ remains in the cytosol. HIF1ɑ is hydroxylated by prolyl...
2.6K
Adaptive Mechanisms in Cancer Cells
5.8K
Cancer cells accumulate genetic changes at an abnormally rapid rate due to the defects in the DNA repair mechanisms. From an evolutionary perspective, such genetic instability is advantageous for cancer development. Mutant cell lines accumulate a series of beneficial mutations that contribute to their progression into cancer.
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
5.8K
Genome-wide Association Studies-GWAS
13.5K
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...
13.5K
Cancer Prevention
6.2K
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...
6.2K


