Single Nucleotide Polymorphisms (SNPs) in the Shadows: Uncovering their Function in Non-Coding Region of Esophageal Cancer

• Published in: Current pharmaceutical biotechnology Vol. 25; no. 15; p. 1915
• Main Authors: Saikia, Surovi, Postwala, Humzah, Athilingam, Vishnu Prabhu, Anandan, Aparna, Padma, V Vijaya, Kalita, Partha P, Chorawala, Mehul, Prajapati, Bhupendra
• Format: Journal Article
• Language: English
• Published: Netherlands 01-01-2024
• Subjects: Animals; Esophageal Neoplasms - genetics; Gene Expression Regulation, Neoplastic; Genetic Predisposition to Disease - genetics; Humans; MicroRNAs - genetics; Polymorphism, Single Nucleotide - genetics; Quantitative Trait Loci - genetics; expression quantitative trait loci (eQTL); non-coding region; single nucleotide polymorphisms (SNPs); miRNA; long non-coding RNA; Esophageal cancer; personalized medicine
• ISSN: 1873-4316
• 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.