沙特患者中与结直肠癌相关的单核酸变异:系统性审查
Ahmad M Alamri1, Abdullah A Assiri2, Najeeb Ullah Khan3
1Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Khalid University, Abha 61413, Saudi Arabia.
Mutation research. Reviews in mutation research
|September 24, 2025
概括
单核酸多态 (SNP) 的遗传变异显著影响沙特患者的结直肠癌 (CRC) 风险. 这些发现为特定人群的风险评估和有针对性的查计划提供了潜力.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 流行病学 流行病学
背景情况:
- 结肠直肠癌 (CRC) 在全球和沙特阿拉伯构成重大健康负担.
- 了解CRC易受性的遗传基础对于有效的预防和管理至关重要.
- 单核酸多态 (SNP) 是关键的遗传变异,可以影响个体患CRC等疾病的风险.
研究的目的:
- 系统地审查和评估沙特人口中单核酸多态 (SNP) 和结直肠癌 (CRC) 易感性之间的关联.
- 在这个人口群体中确定与CRC风险相关的特定遗传变异和途径.
- 评估沙特患者SNP-CRC关联现有研究的质量.
主要方法:
- 根据PRISMA指南进行了全面的系统文献审查.
- 在电子数据库中搜索了调查沙特人口中SNP-CRC关联的研究,包括病例对照研究.
- 使用纽卡斯尔-太华尺度进行数据提取和偏差风险评估,由两位独立审查员进行.
主要成果:
- 涉及2521个CRC病例和2236个对照的23个病例控制研究在46个基因中发现了与CRC风险的显著SNP关联.
- 在炎症/免疫反应,DNA修复,细胞保护,药物代谢,信号和膜/RNA通路中的SNP与改变的CRC易感性有关.
- 一些等位基频率,如CYP19A,在沙特人口中显示出明显的模式. 大多数研究的偏差风险较低.
结论:
- 许多SNP与沙特人口的结直肠癌易感性变化有显著的关联.
- 这些发现揭示了一种复杂的遗传环境,影响了这一人口群中的CRC风险.
- 已识别的SNP有潜力开发沙特特定的CRC风险评估工具和有针对性的选策略.
相关概念视频
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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,...
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