沙特患者中与结直肠癌相关的单核苷酸变异：一项系统综述

IF 4.2 2区医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Reviews in Mutation Research Pub Date : 2025-07-01 DOI:10.1016/j.mrrev.2025.108563

Ahmad M. Alamri , Abdullah A. Assiri , Najeeb Ullah Khan

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引用次数: 0

摘要

目的探讨影响沙特患者结直肠癌易感性的单核苷酸多态性（snp）变异。方法按照PRISMA指南进行系统的文献综述。电子数据库从建立到2025年3月，使用与snp、结直肠癌（CRC）和沙特阿拉伯相关的MeSH术语和关键词进行检索。资格标准要求对沙特人群进行研究，包括确诊的CRC病例和健康对照（≥18岁），调查SNP-CRC相关性，并报告风险估计。研究特征、基因/SNP细节、参与者人数、基因分型方法、风险估计、p值和途径分类的数据由两位独立评论者提取。纽卡斯尔-渥太华量表用于评估纳入病例对照研究的偏倚风险。结果23项病例对照研究符合纳入标准，包括2521例结直肠癌病例和2236例健康对照。这些研究调查了46个不同基因的snp。在各种生物学途径中发现了与结直肠癌风险的显著关联（p <； 0.05）。炎症/免疫反应基因（如TNF-α、IL-17A、PD-1、CTLA-4、IL-10、tgf - β1）的snp显示出增加和降低风险的相关性。DNA修复基因（PARP-1、XRCC1、TP53）和细胞保护/药物代谢基因（ABCC1、MDR1、GSTM1）的变化也会调节易感性。此外，信号通路（VDR、MMP-2、NOTCH）和膜/ rna相关基因（HER1、HER2、RETN、PRNCR1、HOTAIR）中的snp与结直肠癌风险显著相关。一些等位基因频率（CYP19A）在沙特人群中与其他人群相比明显不同。大多数研究（77 %）被评估为具有低偏倚风险，尽管以医院为基础的对照招募是一个常见的限制。结论：本系统综述证实，在沙特人群中，许多snp与结直肠癌易感性的改变显著相关。这些发现强调了复杂的遗传景观，并强调了在沙特阿拉伯开发特定人群CRC风险评估工具和靶向筛查计划的已鉴定snp的潜在价值。

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Single nucleotide variants associated with colorectal cancer among Saudi patients: A systematic review

Objective

To assess the variations in Single Nucleotide Polymorphisms (SNPs) that affect susceptibility of CRC in Saudi patients.

Methods

A systematic literature review was conducted following PRISMA guidelines. Electronic databases were searched from inception up to March 2025 using MeSH terms and keywords related to SNPs, Colorectal Cancer (CRC), and Saudi Arabia. Eligibility criteria mandated studies conducted on Saudi populations, including confirmed CRC cases and healthy controls (≥18 years), investigating SNP-CRC associations, and reporting risk estimates. Data on study characteristics, gene/SNP details, participant numbers, genotyping methods, risk estimates, p-values, and pathway categorization were extracted by two independent reviewers. The Newcastle-Ottawa Scale was used to assess the risk of bias in included case-control studies.

Results

Twenty-three case-control studies met the inclusion criteria, encompassing 2521 CRC cases and 2236 healthy controls. These studies investigated SNPs within 46 different genes. Significant associations (p < 0.05) with CRC risk were identified across various biological pathways. SNPs in inflammation/immune response genes (e.g., TNF-α, IL-17A, PD-1, CTLA-4, IL-10, TGFβ1) showed both increased and decreased risk associations. Variations in DNA repair (PARP-1, XRCC1, TP53) and cellular protection/drug metabolism genes (ABCC1, MDR1, GSTM1) also modulated susceptibility. Furthermore, SNPs in signaling pathways (VDR, MMP-2, NOTCH) and membrane/RNA-related genes (HER1, HER2, RETN, PRNCR1, HOTAIR) were significantly associated with CRC risk. Some allele frequencies (CYP19A) appeared distinct in the Saudi population compared to others. Most studies (77 %) were assessed as having a low risk of bias, though hospital-based control recruitment was a common limitation.

Conclusion

This systematic review confirms that numerous SNPs are significantly associated with altered CRC susceptibility in the Saudi population. These findings highlight a complex genetic landscape and underscore the potential value of identified SNPs for developing population-specific CRC risk assessment tools and targeted screening programs in Saudi Arabia.

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来源期刊

Mutation Research-Reviews in Mutation Research 生物-毒理学

CiteScore

12.20

自引率

1.90%

发文量

审稿时长

15.7 weeks

期刊介绍： The subject areas of Reviews in Mutation Research encompass the entire spectrum of the science of mutation research and its applications, with particular emphasis on the relationship between mutation and disease. Thus this section will cover advances in human genome research (including evolving technologies for mutation detection and functional genomics) with applications in clinical genetics, gene therapy and health risk assessment for environmental agents of concern.