Department of Natural Product Chemistry, Translational Research Laboratory, Bharathiar University, Coimbatore - 641 046, Tamil Nadu, India.
Department of Pharmacology and Pharmacy Practice, L. M. College of Pharmacy, Ahmedabad, India.
Curr Pharm Biotechnol. 2024;25(15):1915-1938. doi: 10.2174/0113892010265004231116092802.
Esophageal cancer is a complex disease influenced by genetic and environmental factors. Single nucleotide polymorphisms (SNPs) in non-coding regions of the genome have emerged as crucial contributors to esophageal cancer susceptibility. This review provides a comprehensive overview of the role of SNPs in non-coding regions and their association with esophageal cancer. The accumulation of SNPs in the genome has been implicated in esophageal cancer risk. Various studies have identified specific locations in the genome where SNPs are more likely to occur, suggesting a location-specific response. Chromatin conformational studies have shed light on the localization of SNPs and their impact on gene transcription, posttranscriptional modifications, gene expression regulation, and histone modification. Furthermore, miRNA-related SNPs have been found to play a significant role in esophageal squamous cell carcinoma (ESCC). These SNPs can affect miRNA binding sites, thereby altering target gene regulation and contributing to ESCC development. Additionally, the risk of ESCC has been linked to base excision repair, suggesting that SNPs in this pathway may influence disease susceptibility. Somatic DNA segment alterations and modified expression quantitative trait loci (eQTL) have also been associated with ESCC. These alterations can lead to disrupted gene expression and cellular processes, ultimately contributing to cancer development and progression. Moreover, SNPs have been found to be associated with the long non-coding RNA HOTAIR, which plays a crucial role in ESCC pathogenesis. This review concludes with a discussion of the current and future perspectives in the field of SNPs in non-coding regions and their relevance to esophageal cancer. Understanding the functional implications of these SNPs may lead to the identification of novel therapeutic targets and the development of personalized approaches for esophageal cancer prevention and treatment.
食管癌是一种受遗传和环境因素影响的复杂疾病。基因组中非编码区域的单核苷酸多态性（SNP）已成为食管癌易感性的重要因素。本综述全面概述了 SNP 在非编码区域的作用及其与食管癌的关联。基因组中 SNP 的积累与食管癌风险有关。各种研究已经确定了基因组中 SNP 更可能发生的特定位置，表明存在位置特异性反应。染色质构象研究揭示了 SNP 的定位及其对基因转录、转录后修饰、基因表达调控和组蛋白修饰的影响。此外，miRNA 相关 SNP 已被发现与食管鳞状细胞癌（ESCC）显著相关。这些 SNP 可以影响 miRNA 结合位点，从而改变靶基因的调控，导致 ESCC 的发生。此外，ESCC 的风险与碱基切除修复有关，这表明该途径中的 SNP 可能影响疾病易感性。ESCC 还与体细胞 DNA 片段改变和修饰的表达数量性状基因座（eQTL）有关。这些改变可导致基因表达和细胞过程的中断，最终促进癌症的发生和发展。此外，还发现 SNP 与长非编码 RNA HOTAIR 相关，HOTAIR 在 ESCC 发病机制中起着至关重要的作用。本综述最后讨论了 SNP 在非编码区域的当前和未来研究视角及其与食管癌的相关性。了解这些 SNP 的功能意义可能会导致发现新的治疗靶点，并为食管癌的预防和治疗制定个性化的方法。
